Relevant bibliographies by topics / Structural variants

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Structural variants'

Author: Grafiati
Published: 4 June 2021
Last updated: 8 March 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Structural variants.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Structural variants"

1

Welsch, Christoph, Sabine Schweizer, Tetsuro Shimakami, Francisco S. Domingues, Seungtaek Kim, Stanley M. Lemon, and Iris Antes. "Ketoamide Resistance and Hepatitis C Virus Fitness in Val55 Variants of the NS3 Serine Protease." Antimicrobial Agents and Chemotherapy 56, no. 4 (January 17, 2012): 1907–15. http://dx.doi.org/10.1128/aac.05184-11.

Full text
Abstract:
ABSTRACTDrug-resistant viral variants are a major issue in the use of direct-acting antiviral agents in chronic hepatitis C. Ketoamides are potent inhibitors of the NS3 protease, with V55A identified as mutation associated with resistance to boceprevir. Underlying molecular mechanisms are only partially understood. We applied a comprehensive sequence analysis to characterize the natural variability at Val55 within dominant worldwide patient strains. A residue-interaction network and molecular dynamics simulation were applied to identify mechanisms for ketoamide resistance and viral fitness in Val55 variants. An infectious H77S.3 cell culture system was used for variant phenotype characterization. We measured antiviral 50% effective concentration (EC50) and fold changes, as well as RNA replication and infectious virus yields from viral RNAs containing variants. Val55 was found highly conserved throughout all hepatitis C virus (HCV) genotypes. The conservative V55A and V55I variants were identified from HCV genotype 1a strains with no variants in genotype 1b. Topology measures from a residue-interaction network of the protease structure suggest a potential Val55 key role for modulation of molecular changes in the protease ligand-binding site. Molecular dynamics showed variants with constricted binding pockets and a loss of H-bonded interactions upon boceprevir binding to the variant proteases. These effects might explain low-level boceprevir resistance in the V55A variant, as well as the Val55 variant, reduced RNA replication capacity. Higher structural flexibility was found in the wild-type protease, whereas variants showed lower flexibility. Reduced structural flexibility could impact the Val55 variant's ability to adapt for NS3 domain-domain interaction and might explain the virus yield drop observed in variant strains.
APA, Harvard, Vancouver, ISO, and other styles
2

Ahdesmäki, Miika J., Brad A. Chapman, Pablo Cingolani, Oliver Hofmann, Aleksandr Sidoruk, Zhongwu Lai, Gennadii Zakharov, et al. "Prioritisation of structural variant calls in cancer genomes." PeerJ 5 (April 4, 2017): e3166. http://dx.doi.org/10.7717/peerj.3166.

Full text
Abstract:
Sensitivity of short read DNA-sequencing for gene fusion detection is improving, but is hampered by the significant amount of noise composed of uninteresting or false positive hits in the data. In this paper we describe a tiered prioritisation approach to extract high impact gene fusion events from existing structural variant calls. Using cell line and patient DNA sequence data we improve the annotation and interpretation of structural variant calls to best highlight likely cancer driving fusions. We also considerably improve on the automated visualisation of the high impact structural variants to highlight the effects of the variants on the resulting transcripts. The resulting framework greatly improves on readily detecting clinically actionable structural variants.
APA, Harvard, Vancouver, ISO, and other styles
3

Laddach, Anna, Joseph Chi Fung Ng, and Franca Fraternali. "Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants." PLOS Biology 19, no. 4 (April 28, 2021): e3001207. http://dx.doi.org/10.1371/journal.pbio.3001207.

Full text
Abstract:
Missense variants are present amongst the healthy population, but some of them are causative of human diseases. A classification of variants associated with “healthy” or “diseased” states is therefore not always straightforward. A deeper understanding of the nature of missense variants in health and disease, the cellular processes they may affect, and the general molecular principles which underlie these differences is essential to offer mechanistic explanations of the true impact of pathogenic variants. Here, we have formalised a statistical framework which enables robust probabilistic quantification of variant enrichment across full-length proteins, their domains, and 3D structure-defined regions. Using this framework, we validate and extend previously reported trends of variant enrichment in different protein structural regions (surface/core/interface). By examining the association of variant enrichment with available functional pathways and transcriptomic and proteomic (protein half-life, thermal stability, abundance) data, we have mined a rich set of molecular features which distinguish between pathogenic and population variants: Pathogenic variants mainly affect proteins involved in cell proliferation and nucleotide processing and are enriched in more abundant proteins. Additionally, rare population variants display features closer to common than pathogenic variants. We validate the association between these molecular features and variant pathogenicity by comparing against existing in silico variant impact annotations. This study provides molecular details into how different proteins exhibit resilience and/or sensitivity towards missense variants and provides the rationale to prioritise variant-enriched proteins and protein domains for therapeutic targeting and development. The ZoomVar database, which we created for this study, is available at fraternalilab.kcl.ac.uk/ZoomVar. It allows users to programmatically annotate missense variants with protein structural information and to calculate variant enrichment in different protein structural regions.
APA, Harvard, Vancouver, ISO, and other styles
4

Khanna, Tarun, Gordon Hanna, Michael J. E. Sternberg, and Alessia David. "Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants." Human Genetics 140, no. 5 (January 27, 2021): 805–12. http://dx.doi.org/10.1007/s00439-020-02246-z.

Full text
Abstract:
AbstractThe interpretation of human genetic variation is one of the greatest challenges of modern genetics. New approaches are urgently needed to prioritize variants, especially those that are rare or lack a definitive clinical interpretation. We examined 10,136,597 human missense genetic variants from GnomAD, ClinVar and UniProt. We were able to perform large-scale atom-based mapping and phenotype interpretation of 3,960,015 of these variants onto 18,874 experimental and 84,818 in house predicted three-dimensional coordinates of the human proteome. We demonstrate that 14% of amino acid substitutions from the GnomAD database that could be structurally analysed are predicted to affect protein structure (n = 568,548, of which 566,439 rare or extremely rare) and may, therefore, have a yet unknown disease-causing effect. The same is true for 19.0% (n = 6266) of variants of unknown clinical significance or conflicting interpretation reported in the ClinVar database. The results of the structural analysis are available in the dedicated web catalogue Missense3D-DB (http://missense3d.bc.ic.ac.uk/). For each of the 4 M variants, the results of the structural analysis are presented in a friendly concise format that can be included in clinical genetic reports. A detailed report of the structural analysis is also available for the non-experts in structural biology. Population frequency and predictions from SIFT and PolyPhen are included for a more comprehensive variant interpretation. This is the first large-scale atom-based structural interpretation of human genetic variation and offers geneticists and the biomedical community a new approach to genetic variant interpretation.
APA, Harvard, Vancouver, ISO, and other styles
5

Liao, Wen-Wei, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, et al. "A draft human pangenome reference." Nature 617, no. 7960 (May 10, 2023): 312–24. http://dx.doi.org/10.1038/s41586-023-05896-x.

Full text
Abstract:
AbstractHere the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
APA, Harvard, Vancouver, ISO, and other styles
6

Neuser, Sonja, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Tobias Bartolomaeus, Jan Döring, Steffen Syrbe, et al. "Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain." European Journal of Human Genetics 30, no. 1 (October 25, 2021): 101–10. http://dx.doi.org/10.1038/s41431-021-00982-y.

Full text
Abstract:
AbstractBiallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot–Marie–Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagnosis of PNKP-related primary microcephaly. Pathological examination of a male fetus in the 18th gestational week revealed micrencephaly with extracerebral malformations and thus presumed syndromic microcephaly. A recessive disorder was suspected because of previous pregnancy termination for similar abnormalities. Prenatal trio-exome sequencing identified compound heterozygosity for the PNKP variants c.498G>A, p.[(=),0?] and c.302C>T, p.(Pro101Leu). Segregation confirmed both variants in the sister fetus. Through RNA analyses, we characterized exon 4 skipping affecting the PNKP forkhead-associated (FHA) and phosphatase domains (p.Leu67_Lys166del) as the predominant effect of the paternal c.498G>A variant. We retrospectively investigated two unrelated individuals diagnosed with biallelic PNKP-variants to compare prenatal/postnatal phenotypes. Both carry the splice donor variant c.1029+2T>C intrans with a variant in the FHA domain (c.311T>C, p.(Leu104Pro); c.151G>C, p.(Val51Leu)). RNA-seq showed complex splicing for c.1029+2T>C and c.151G>C. Structural modeling revealed significant clustering of missense variants in the FHA domain with variants generating structural damage. Our clinical description extends the PNKP-continuum to the prenatal stage. Investigating possible PNKP-variant effects using RNA and structural modeling, we highlight the mutational complexity and exemplify a PNKP-variant characterization framework.
APA, Harvard, Vancouver, ISO, and other styles
7

Chowdhury, Murad, Brent S. Pedersen, Fritz J. Sedlazeck, Aaron R. Quinlan, and Ryan M. Layer. "Searching thousands of genomes to classify somatic and novel structural variants using STIX." Nature Methods 19, no. 4 (April 2022): 445–48. http://dx.doi.org/10.1038/s41592-022-01423-4.

Full text
Abstract:
AbstractStructural variants are associated with cancers and developmental disorders, but challenges with estimating population frequency remain a barrier to prioritizing mutations over inherited variants. In particular, variability in variant calling heuristics and filtering limits the use of current structural variant catalogs. We present STIX, a method that, instead of relying on variant calls, indexes and searches the raw alignments from thousands of samples to enable more comprehensive allele frequency estimation.
APA, Harvard, Vancouver, ISO, and other styles
8

Hain, Carsten, Rudolf Stadler, and Jörn Kalinowski. "Unraveling the Structural Variations of Early-Stage Mycosis Fungoides—CD3 Based Purification and Third Generation Sequencing as Novel Tools for the Genomic Landscape in CTCL." Cancers 14, no. 18 (September 14, 2022): 4466. http://dx.doi.org/10.3390/cancers14184466.

Full text
Abstract:
Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma (CTCL). At present, knowledge of genetic changes in early-stage MF is insufficient. Additionally, low tumor cell fraction renders calling of copy-number variations as the predominant mutations in MF challenging, thereby impeding further investigations. We show that enrichment of T cells from a biopsy of a stage I MF patient greatly increases tumor fraction. This improvement enables accurate calling of recurrent MF copy-number variants such as ARID1A and CDKN2A deletion and STAT5 amplification, undetected in the unprocessed biopsy. Furthermore, we demonstrate that application of long-read nanopore sequencing is especially useful for the structural variant rich CTCL. We detect the structural variants underlying recurrent MF copy-number variants and show phasing of multiple breakpoints into complex structural variant haplotypes. Additionally, we record multiple occurrences of templated insertion structural variants in this sample. Taken together, this study suggests a workflow to make the early stages of MF accessible for genetic analysis, and indicates long-read sequencing as a major tool for genetic analysis for MF.
APA, Harvard, Vancouver, ISO, and other styles
9

KHACHATRYAN, Lalik. "STRUCTURAL TYPES OF ARMENIAN LANGUAGE VARIANT- UNITS IN THE TRANSLATION BOOKS OF THE BIBLE." Main Issues Of Pedagogy And Psychology 17, no. 1 (April 28, 2020): 126–36. http://dx.doi.org/10.24234/miopap.v17i1.372.

Full text
Abstract:
The correlative study of variants’ form and meaning in the Bible books shows that some types of variants; word-variants, phonetic-variants, grammatical variants, that give some idea about present linguistic reality from the synchronic point. The marginal components of word variants are words which have different manifestations of the form. Phonetic variants have been formed through sound- interchange. Grammatical variants are formed by different declensional forms. The results of the investigation can serve as a means of comparison for both the interlinguistic and interlinguistic typological investigation. From the subject of the study, we can conclude that variant-units found in the Bible are a heritage from the prewritten period. They have been transferred to old Armenian with the lexical structure of prewritten Armenian and were reflected in the first Armenian translation manuscript- in the Bible.
APA, Harvard, Vancouver, ISO, and other styles
10

Flynn, C. P., and J. A. Eades. "Structural variants in heteroepitaxial growth." Thin Solid Films 389, no. 1-2 (June 2001): 116–37. http://dx.doi.org/10.1016/s0040-6090(01)00768-4.

Full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Structural variants"

1

Bruce, David. "Antithrombin : structural variants and thrombosis." Thesis, Open University, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.386084.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Seabra, Catarina Morais. "Rare structural variants in severe spermatogenic impairment." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/9537.

Full text
Abstract:
Mestrado em Biomedicina Molecular
A azoospermia afeta aproximadamente 15% de todos os homens inférteis e é frequentemente causada por anomalias cromossómicas e microdeleções do cromossoma Y. No entanto, em aproximadamente 70% dos casos de azoospermia não-obstrutiva (NOA) as causas permanecem por identificar. Nos últimos anos, a descoberta de variantes genómicas de número de cópia (CNVs), como as causadas por deleções, revelou uma fonte de variação genómica que afecta a dosagem génica e que poderá resultar em haploinsuficiência. De facto, observa-se uma sobre-representação de CNVs raros (<1% na população), sobretudo de grandes deleções de novo, em pacientes com diferentes distúrbios do desenvolvimento, comparados com controlos saudáveis. Porém, uma possível contribuição, para a infertilidade masculina, de variantes estruturais ligados ao cromossoma X e aos autossomas foi ainda pouco explorada. Este estudo foca-se na validação de deleções encontradas apenas em pacientes inférteis, no cromossoma X e em 11p13, que contêm genes candidatos a participar na espermatogénese. Estas deleções, previamente identificadas por arrays de oligonucleótidos, de elevada densidade (Affymetrix 6.0 SNP Array), numa coorte de 171 pacientes Portugueses com disfunção severa da espermatogénese (NOA e oligozoospermia severa), foram agora confirmadas por técnicas convencionais de genética molecular. Adicionalmente, a caraterização dos locais de quebra nestas deleções foi realizada por aCGH. Ainda que não se tenham validado as deleções menos extensas (em Xq21.1, Xq25, Xp11.4, Xq22.1 e Xq26.3), confirmou-se a nulizigotia em Xq28 nestes indivíduos, que abrange genes candidatos com uma função sugestiva na espermatogénese: MAGE-A8, expresso em testículo e em alguns cancros e o microRNA hsa-miR-4330, envolvido na regulação pós-transcricional de vários genes com expressão na linha germinal. Foi ainda validada, por MLPA, uma deleção extensa num paciente infértil não-sindrómico da nossa coorte. Estes resultados apontam a haploinsuficiência de WT1 como a causa mais provável de azoospermia neste paciente, já que não foram detetadas mutações germinais no alelo restante. Mutações no gene WT1, que codifica um factor de transcrição muito conservado, crucial para o desenvolvimento e manutenção gonadal em mamíferos, geralmente interferem com a ligação desta proteína ao DNA e estão principalmente associadas a síndromes que envolvem anomalias reprodutivas. Motivados pela nossa descoberta de uma deleção de WT1 num homem infértil embora saudável, decidimos abordar a contribuição de mutações exónicas no gene WT1 para a azoospermia isolada. Testámos a hipótese de que mutações localizadas em domínios que não aqueles essenciais à ligação ao DNA pudessem resultar na disfunção não-sindrómica da espermatogénese. Assim, analisámos a sequência codificante de WT1 num subgrupo de 40 pacientes azoospérmicos. Como resultado, descrevemos uma nova variação missense c.185C>T (P130L; ENST00000332351) no primeiro exão de WT1, inserida no domínio proteico de auto-associação. A nova variante descrita deverá ter um impacto menos drástico na função da proteína WT1, comparativamente com as mutações descritas no mesmo exão até à data, as quais resultam em proteínas truncadas e fenótipos severos de disfunção gonadal, incluindo a formação de tumores renais. Estes resultados revelam novos genes candidatos a um papel na espermatogénese e sugerem que a haploinsuficiência de proteínas importantes para o desenvolvimento do sistema reprodutor masculino podem resultar em azoospermia. Estudos futuros poderão clarificar a utilidade dos nossos genes candidatos como biomarcadores da infertilidade masculina. A implementação de novos biomarcadores beneficiaria os doentes azoospérmicos através da melhoria do diagnóstico, aconselhamento genético e acompanhamento destes pacientes, podendo vir a limitar a necessidade de procedimentos invasivos.
Azoospermia affects approximately 15% of all infertile males and it is frequently caused by chromosomal abnormalities and Yq microdeletions. However, despite considerable research efforts in the last decades, in approximately 70% of the cases of non-obstructive azoospermia (NOA) the causes are yet to be identified. In the last years, the discovery of genomic copy number variants, such as those caused by deletions, revealed a source of genomic variation which impacts gene dosage and may result in haploinsufficiency. In fact, rare CNVs (<1% population), mainly large de novo deletions, are over-represented in patients with different developmental disorders, compared to healthy controls. However, a possible contribution of X-linked and autosomal structural variants to male infertility is still largely unexplored. This study focused on the validation of rare patient-specific deletions found on the X chromosome and at 11p13 of infertile patients, which harbor candidate spermatogenesis genes. These deletions had been previously identified by high density oligonucleotide arrays (Affymetrix 6.0 SNP Array), in a cohort of 171 Portuguese patients with severe spermatogenic impairment (non-obstructive azoospermia and severe oligozoospermia) and were now confirmed by conventional molecular genetics techniques. Additionally, breakpoint characterization was carried out by aCGH. In fact, even though the smaller deletions (at Xq21.1, Xq25, Xp11.4, Xq22.1 and Xq26.3) were not validated, we confirmed nullizygosity at Xq28 in two patients, spanning either MAGE-A8, a known cancer-testis antigen, or hsa-miR-4330, a microRNA involved in post-transcription regulation, both with a suggestive role in spermatogenesis pathways. We have also validated by MLPA a large deletion at 11p13, in a non-syndromic infertile patient from our cohort. These results support WT1 haploinsufficiency as the likely cause of azoospermia in this patient, as no other germline mutations were detected in the remaining WT1 copy. Mutations in WT1, an evolutionarily conserved transcription factor crucial for gonadal development and maintenance in mammals, typically interfere with the DNA-binding properties of the protein and are mainly associated with syndromes involving reproductive abnormalities. Motivated by our finding of a WT1 deletion in an infertile but otherwise healthy man we addressed the contribution of WT1 exonic mutations to isolated azoospermia. We reasoned that mutations located in domains not essential for DNA binding could result in non-syndromic spermatogenic impairment. Thus, we analyzed the WT1 coding sequence in a subgroup of 40 azoospermic patients. As a result of the exon screening, we report a novel c.185C>T (P130L; ENST00000332351) WT1 missense variant on exon 1, within the protein self-association domain. While all exon 1 mutations as yet reported result in truncated proteins and severe phenotypes, including the formation of renal tumors, this novel variant is expected to have a milder impact on WT1 function. These results reveal new candidate genes for a role in spermatogenesis and suggest that haploinsufficiency of proteins important for the development of the male reproductive system can lead to azoospermia. Further studies will clarify the utility of our candidate genes as biomarkers of male infertility. The implementation of new biomarkers would benefit azoospermic men by improving diagnosis, genetic counseling and patient care, eventually limiting the need for invasive procedures.
APA, Harvard, Vancouver, ISO, and other styles
3

Toyama, Brandon Hiroyuki. "The structural basis of yeast prion strain variants." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2009. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3378511.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Lecompte, Lolita. "Structural variant genotyping with long read data." Thesis, Rennes 1, 2020. http://www.theses.fr/2020REN1S054.

Full text
Abstract:
Les variants de structure (SVs) sont des réarrangements génomiques de plus de 50 paires de base et restent encore aujourd'hui peu étudiés malgré les impacts importants qu'ils peuvent avoir sur le fonctionnement des génomes. Récemment, les technologies de séquençage de troisième génération ont été développées et produisent des données de longues lectures qui s'avèrent très utiles car elles peuvent chevaucher les réarrangements. À l'heure actuelle, les méthodes bioinformatiques se sont concentrées sur le problème de la découverte de SVs avec des données de longues lectures. Aucune méthode n'a cependant été proposée pour répondre spécifiquement à la question du génotypage de SVs avec ce même type de données. L'objectif du génotypage de SVs vise pour un ensemble de SVs donné à évaluer les allèles présents dans un nouvel échantillon séquencé. Cette thèse propose une nouvelle méthode pour génotyper des SVs avec des longues lectures et repose sur la représentation des séquences des allèles. Notre méthode a été implémentée dans l'outil SVJedi. Nous avons testé notre outil à la fois sur des données simulées et réelles afin de valider notre méthode. SVJedi obtient une précision élevée qui dépasse les performances des autres outils de génotypage de SVs, notamment des outils de détection de SVs et des outils de génotypage de SVs de lectures courtes
Structural Variants (SVs) are genomic rearrangements of more than 50 base pairs. Since SVs can reach several thousand base pairs, they can have huge impacts on genome functions, studying SVs is, therefore, of great interest. Recently, a new generation of sequencing technologies has been developed and produce long read data of tens of thousand of base pairs which are particularly useful for spanning over SV breakpoints. So far, bioinformatics methods have focused on the SV discovery problem with long read data. However, no method has been proposed to specifically address the issue of genotyping SVs with long read data. The purpose of SV genotyping is to assess for each variant of a given input set which alleles are present in a newly sequenced sample. This thesis proposes a new method for genotyping SVs with long read data, based on the representation of each allele sequences. We also defined a set of conditions to consider a read as supporting an allele. Our method has been implemented in a tool called SVJedi. Our tool has been validated on both simulated and real human data and achieves high genotyping accuracy. We show that SVJedi obtains better performances than other existing long read genotyping tools and we also demonstrate that SV genotyping is considerably improved with SVJedi compared to other approaches, namely SV discovery and short read SV genotyping approaches
APA, Harvard, Vancouver, ISO, and other styles
5

Masciangioli, Tina Marie. "Structural and dynamic studies of bacteriorhodopsin and its variants." Diss., Georgia Institute of Technology, 1999. http://hdl.handle.net/1853/30551.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

NASCIMENTO, JÚNIOR Francisco do. "ScreenVar - a biclustering-based methodology for evaluating structural variants." Universidade Federal de Pernambuco, 2017. https://repositorio.ufpe.br/handle/123456789/25375.

Full text
Abstract:
Submitted by Fernanda Rodrigues de Lima (fernanda.rlima@ufpe.br) on 2018-08-01T20:49:02Z No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Francisco do Nascimento Junior.pdf: 1104753 bytes, checksum: 794ee127f9a27d065eb71104d4849c0e (MD5)
Approved for entry into archive by Alice Araujo (alice.caraujo@ufpe.br) on 2018-08-03T19:38:31Z (GMT) No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Francisco do Nascimento Junior.pdf: 1104753 bytes, checksum: 794ee127f9a27d065eb71104d4849c0e (MD5)
Made available in DSpace on 2018-08-03T19:38:31Z (GMT). No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Francisco do Nascimento Junior.pdf: 1104753 bytes, checksum: 794ee127f9a27d065eb71104d4849c0e (MD5) Previous issue date: 2017-02-17
CAPES
The importance of structural variants as a source of phenotypic variation has grown in recent years. At the same time, the number of tools that detect structural variations using Next- Generation Sequencing (NGS) has increased considerably with the dramatic drop in the cost of sequencing in last ten years. Then evaluating properly the detected structural variants has been featured prominently due to the uncertainty of such alterations, bringing important implications for researchers and clinicians on scrutinizing thoroughly the human genome. These trends have raised interest about careful procedures for assessing the outcomes from variant calling tools. Here, we characterize the relevant technical details of the detection of structural variants, which can affect the accuracy of detection methods and also we discuss the most important caveats related to the tool evaluation process. This study emphasizes common assumptions, a variety of possible limitations, and valuable insights extracted from the state-of-the-art in CNV (Copy Number Variation) detection tools. Among such points, a frequently mentioned and extremely important is the lack of a gold standard of structural variants, and its impact on the evaluation of existing detection tools. Next, this document describes a biclustering-based methodology to screen a collection of structural variants and provide a set of reliable events, based on a defined equivalence criterion, that is supported by different studies. Finally, we carry out experiments with the proposed methodology using as input data the Database of Genomic Variants (DGV). We found relevant groups of equivalent variants across different studies. In summary, this thesis shows that there is an alternative approach to solving the open problem of the lack of gold standard for evaluating structural variants.
A importância das variantes estruturais como fonte de variação fenotípica tem se proliferado nos últimos anos. Ao mesmo tempo, o número de ferramentas que detectam variações estruturais usando Next-Generation Sequencing (NGS) aumentou consideravelmente com a dramática queda no custo de seqüenciamento nos últimos dez anos. Neste cenário, avaliar corretamente as variantes estruturais detectadas tem recebido destaque proeminente devido à incerteza de tais alterações, trazendo implicações importantes para os pesquisadores e clínicos no exame minucioso do genoma humano. Essas tendências têm impulsionado o interesse em procedimentos criteriosos para avaliar os variantes identificados. Inicialmente, caracterizamos os detalhes técnicos relevantes em torno da detecção de variantes estruturais, os quais podem afetar a precisão. Além disso, apresentamos advertências fundamentais relacionadas ao processo de avaliação de uma ferramenta. Desta forma, este estudo enfatiza questões como suposições comuns à maioria das ferramentas, juntamente com limitações e vantagens extraídas do estadoda- arte em ferramentas de detecção de variantes estruturais. Entre esses pontos, há uma muito questão bastante citada que é a falta de um gold standard de variantes estruturais, e como sua ausência impacta na avaliação das ferramentas de detecção existentes. Em seguida, este documento descreve uma metodologia baseada em biclustering para pesquisar uma coleção de variantes estruturais e fornecer um conjunto de eventos confiáveis, com base em um critério de equivalência definido e apoiado por diferentes estudos. Finalmente, realizamos experimentos com essa metodologia usando o Database of Genomic Variants (DGV) como dados de entrada e encontramos grupos relevantes de variantes equivalentes em diferentes estudos. Desta forma, esta tese mostra que existe uma abordagem alternativa para o problema em aberto da falta de gold standard para avaliar variantes estruturais.
APA, Harvard, Vancouver, ISO, and other styles
7

Lee, Seung-Joo. "Structural and functional consequences of disease-related protein variants." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1269545015.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Boulding, Hannah. "Identifying causative elements within structural variants associated with developmental disorders." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:d9af47cc-1c91-4a66-a6ac-86655f1ff375.

Full text
Abstract:
It has been well established that copy number variation contributes substantially to genetic variation within human populations. However, the extent to which de novo and inherited copy number variants (CNVs) underlie human disease is not well known. In this thesis, I investigate the role of de novo and inherited CNVs in a wide range of developmental abnormalities. First, I compare disease associated and apparently benign CNVs for structural differences, with the aim of identifying distinguishing features of disease causing CNVs. I identified significant enrichments of protein-coding genes, protein-coding genes associated with disease in OMIM and miRNAs amongst disease associated disease. Conversely, inherited CNVs observed in healthy individuals show depletions of these features. Following this, I employ functional enrichment approaches to identify the copy number variable genes within these de novo CNVs that contribute to the patient’s developmental abnormalities. I predict candidate genes for 143 different developmental abnormalities, with 65% of the candidate genes not having been previously associated with disease in OMIM. Through examining the distribution of these candidate genes within the patient’s CNVs, I found evidence of extensive pleiotropy and epistasis as well as a small number of simple additive effects. Finally, I extend my analyses to examine the role of inherited CNVs as the underlying cause of human developmental disorders. I implicate inherited CNVs and their overlapping copy number variable genes in the underlying causes of 45 human developmental abnormalities. Additionally, I re-examine the patients possessing both de novo CNVs and inherited CNVs using functional enrichment analyses. I reveal significant enrichments for a greater number of human developmental abnormalities when combining both the de novo and inherited CNVs, suggesting it is de novo mutations in combination with the inherited genomic background that are responsible for many instances of human developmental abnormalities.
APA, Harvard, Vancouver, ISO, and other styles
9

Suliman, Muna. "Identifying Sortase A Variants With Higher Catalytic Effeciency." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/383.

Full text
Abstract:
In the past two decades, the field of protein engineering has evolved rapidly to include new genetic and chemical techniques to alter protein function. Protein engineering seeks to improve enzyme properties through powerful methods that specifically incorporate novel or improved function in proteins. One such method is protein ligation, which is used to selectively link synthetic and recombinant polypeptides. Due to the limitations of current protein labeling techniques, simple site-specific modification methods remain in high demand. Use of enzyme-based labeling has been the focus of various studies because of its substrate specificity. Sortase-mediated transpeptidation is one approach that has been well documented. Staphylococcus aureus sortase A (SrtAstaph), a membrane-anchored cysteine transpeptidase present in gram-positive bacteria, covalently anchors virulence-associated surface proteins to the peptidoglycan cross bridge of the cell wall. SrtAstaph, one of the most characterized sortases, has found numerous applications in the semi-synthesis of protein and peptide conjugates. While current studies have demonstrated the growing range of applications for sortase A, the enzyme itself has seen very few improvements. In steady-state kinetic analysis, the calculated K cat value of SrtAstaph was 2.27 × 10−5 s−1 indicative of its slow in-vitro turnover rate. Due to sortase’s relative inefficiency, several studies documented the use of excessive amounts of the enzyme in vitro (>30μM) or reactions were incubated for long periods. Through the use of directed evolution, we aimed to improve the catalytic activity of sortase A. Using random mutagenesis and an in vivo bacterial-based screen we isolated a variant that showed a 13-fold increase in its catalytic efficiency when compared to wild-type. This sortase mutant will enable more efficient labeling of LPETG-tagged substrates and will provide further insight into the enzyme’s molecular mechanism of catalysis, which is currently limited.
APA, Harvard, Vancouver, ISO, and other styles
10

Boopathy, Sivakumar. "Investigating Structural and Functional Defects in ALS-causing Profilin 1 Variants." eScholarship@UMMS, 2009. http://escholarship.umassmed.edu/gsbs_diss/923.

Full text
Abstract:
Mutations in profilin 1 (PFN1) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that targets motor neurons. PFN1 is a 15 kDa protein that is best known for its role in actin dynamics. However, little is known about the pathological mechanisms of PFN1 in ALS. In this dissertation, it is demonstrated that certain familial ALS-linked mutations severely destabilize the native conformation of PFN1 in vitro and cause accelerated turnover of the PFN1 protein in neuronal cells. This mutation-induced destabilization can account for the high propensity of ALS-linked variants to aggregate and also provides rationale for their reported functional defects in cell-based assays. The source of this destabilization is illuminated by the crystal structures of several PFN1 proteins, revealing an expanded cavity near the protein core of one ALS variant and predicting a non-surface exposed cavity in another. Functional biochemical experiments point to abnormalities in actin filament nucleation and elongation caused by PFN1 mutants. In HeLa cells, PFN1 is essential for the generation of actin-rich filopodia and expression of mutant PFN1 alters filopodia density further supporting a pathogenesis mechanism involving actin cytoskeleton. Taken together, this dissertation infers that the pathogenesis of ALS due to mutations in PFN1 can be mediated at least by two possibly related mechanisms, a destabilization of the native PFN1 structure and an impact on the actin assembly processes.
APA, Harvard, Vancouver, ISO, and other styles
More sources

Books on the topic "Structural variants"

1

Feuk, Lars, ed. Genomic Structural Variants. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-61779-507-7.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Henschen, A., and B. Henssel, eds. Structural variants and interactions. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Proukakis, Christos, ed. Genomic Structural Variants in Nervous System Disorders. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2357-2.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Workshop on Fibrinogen. (1983 Stockholm, Sweden). Fibrinogen, structural variants and interactions: Proceedings workshop on Fibrinogen, Stockholm, Sweden, July 9-10, 1983. Edited by Henschen A. 1935-. Berlin: W. de Gruyter, 1985.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

Buunk, Bram. Variant lifestyles and relationships. Newbury Park, Calif: Sage Publications, 1989.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

Natke, Hans G., Geoffrey R. Tomlinson, and James T. P. Yao. Safety Evaluation Based on Identification Approaches Related to Time-Variant and Nonlinear Structures. Wiesbaden: Vieweg+Teubner Verlag, 1993. http://dx.doi.org/10.1007/978-3-322-89467-0.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

G, Natke H., Tomlinson Geoffrey R, Yao James Tsu-ping 1932-, and International Workshop on Safety Evaluation Based On Identification Approaches Related to Time-Variant and Nonlinear Structures (1992 : Lambrecht, Germany), eds. Safety evaluation based on system identification approaches related to time-variant and nonlinear structures. Braunschweig: F. Vieweg, 1993.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

Gutiérrez, Gladys M. Sirvent. Colonia La Tabacalera: Varias lecturas sobre un mismo patrimonio. México, D.F: Universidad Autónoma Metropolitana-Xochimilco, División Ciencias y Artes para el Diseño, Depto. de Teoría y Análisis, 1994.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

Kiem, Karl. Die Gartenstadt Staaken (1914-1917): Typen, Gruppen, Varianten. Berlin: Gebr. Mann, 1997.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

Podgaet͡skiĭ, V. V. Goroda Ukrainy v gody NĖPA: Variant kliometricheskogo podkhoda k analizu sot͡sialʹnykh struktur : monografii͡a. Dnipropetrovsʹk: Vyd-vo DDU, 1994.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "Structural variants"

1

Fromer, Menachem, and Shaun Purcell. "Rare Structural Variants." In Assessing Rare Variation in Complex Traits, 45–56. New York, NY: Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_4.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Sybenga, Jacob. "Karyotype Variants A: Chromosome Structural Variants." In Cytogenetics in Plant Breeding, 101–39. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-84083-8_5.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Henschen, A. "Two thousand years of fibrinogen research and evidence for fibrin being the first protein." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 1–8. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-002.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Fowlkes, D. M., N. T. Mullis, C. M. Comeau, and G. R. Crabtree. "Fibrinogen evolution - The structure and evolution of fibrinogen: The coiled coil region." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 11–22. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-003.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Courtois, G., G. Uzan, Z. Assouline, G. Marguerie, and A. Kahn. "Absence of gross defect of fibrinogen genes in one patient with congenital afibrinogenemia." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 23–30. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-004.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Blombäck, B. "Fibrinogen to fibrin - an overview." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 33–42. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-005.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Matsueda, G. R., K. Y. Hui, and E. Haber. "Fibrin - specific monoclonal antibodies are elicited by immunization with a synthetic fibrin-like peptide." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 43–50. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-006.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Kaminski, M., and J. McDonagh. "Enhancement of fibrin polymerization by active site - inhibited thrombin." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 51–64. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-007.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Harenberg, J., J. X. de Vries, and S. Waibel. "Peptides released from human fibrinogen by thrombic enzymes." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 65–72. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-008.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Southan, C., and A. Hensc. "The analysis of fibrinopeptide release from S--carboxymethylated fibrinogen chains using high-performance liquid chromatography." In Structural variants and interactions, edited by A. Henschen and B. Henssel, 73–82. Berlin, Boston: De Gruyter, 1985. http://dx.doi.org/10.1515/9783110855951-009.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Structural variants"

1

Tyrell, Stacey, Mark Robeson, Courtney Kube, Dennis McCarthy, and Ronald Lavin. "Dual-Use Structures: Composite Wing with Structural Antenna Aperture." In Vertical Flight Society 72nd Annual Forum & Technology Display, 1–8. The Vertical Flight Society, 2016. http://dx.doi.org/10.4050/f-0072-2016-11552.

Full text
Abstract:
Many modern aircraft, including rotorcraft, require conformal antennas and fairings to reduce wind drag, ice accretion, lightning strikes, and impact damage. An innovative composite wing configuration with a structural Ultra High Frequency (UHF) antenna window "aperture" has been developed. The wing is based on variants of lightweight X-Cor® sandwich core technology for durability and damage tolerance, with tailored electromagnetic properties in the aperture region of the wing. This paper presents a brief introduction to helicopter wings, a summary of recent research at Boeing and Army leading to this design, and the development approach used for this project. Structural and electromagnetic analyses are provided, and measurement results of an early prototype are summarized. The emphasis of this paper is on the wing configuration details surrounding the antenna aperture. The approach can be replicated on almost any current or future aircraft or rotorcraft.
APA, Harvard, Vancouver, ISO, and other styles
2

Yang, Yaning, Jiawei Wang, Xiaoqi Wang, Liwen Xu, Liangrui Pan, and Shaoliang Peng. "TranSVPath: A TabTransformer-Based Model for Predicting the Pathogenicity of Structural Variants." In 2024 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), 1289–95. IEEE, 2024. https://doi.org/10.1109/bibm62325.2024.10822287.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Winkels, Jan, Felix Özkul, Robin Sutherland, Jannik Löhn, Sigrid Wenzel, and Jakob Rehof. "Component-Based Synthesis of Structural Variants of Simulation Models for Changeable Material Flow Systems." In 2024 Winter Simulation Conference (WSC), 1657–68. IEEE, 2024. https://doi.org/10.1109/wsc63780.2024.10838927.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Mahmod, N. M., and Wong Yan Chiew. "Structural similarity of business process variants." In 2010 IEEE Conference on Open Systems (ICOS 2010). IEEE, 2010. http://dx.doi.org/10.1109/icos.2010.5720057.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Magomedov, Daniyal. "Structural-syntactical variants of Avar paremias." In Proceedings of the International Conference on Man-Power-Law-Governance: Interdisciplinary Approaches (MPLG-IA 2019). Paris, France: Atlantis Press, 2019. http://dx.doi.org/10.2991/mplg-ia-19.2019.20.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Černičková, Ivona, Marek Mihalkovič, Libor Ďuriška, Peter Švec, Peter Švec, and Jozef Janovec. "Atomic models of εn structural variants - Overview." In APPLIED PHYSICS OF CONDENSED MATTER (APCOM 2022). AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0135821.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Huiqiang Jia, Haicho Wei, Daming Zhu, Jingjing Ma, Hai Yang, Ruizhi Wang, and Xianzhong Feng. "Mining structural variants of Heduo12 using paired-end reads." In 2016 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2016. http://dx.doi.org/10.1109/bibm.2016.7822502.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Cardoso, Rosa, Shalom Goldberg, Jinquan Luo, Alexander Barnakov, Edward Swift, Steven Jacobs, and Gary Gilliland. "Abstract 3222: Structural evaluation of several antitumor Tencon variants." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3222.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Lazar, Andrew, Mario Banuelos, Suzanne Sindi, and Roummel F. Marcia. "Detecting novel genomic structural variants through negative binomial optimization." In 2020 54th Asilomar Conference on Signals, Systems, and Computers. IEEE, 2020. http://dx.doi.org/10.1109/ieeeconf51394.2020.9443308.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Faugere, Jean-Charles, Ayoub Otmani, Ludovic Perret, Frederic de Portzamparc, and Jean-Pierre Tillich. "Structural weakness of compact variants of the McEliece cryptosystem." In 2014 IEEE International Symposium on Information Theory (ISIT). IEEE, 2014. http://dx.doi.org/10.1109/isit.2014.6875127.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Reports on the topic "Structural variants"

1

Welch, David, and Gregory Deierlein. Technical Background Report for Structural Analysis and Performance Assessment (PEER-CEA Project). Pacific Earthquake Engineering Research Center, University of California, Berkeley, CA, November 2020. http://dx.doi.org/10.55461/yyqh3072.

Full text
Abstract:
This report outlines the development of earthquake damage functions and comparative loss metrics for single-family wood-frame buildings with and without seismic retrofit of vulnerable cripple wall and stem wall conditions. The underlying goal of the study is to quantify the benefits of the seismic retrofit in terms of reduced earthquake damage and repair or reconstruction costs. The earthquake damage and economic losses are evaluated based on the FEMA P-58 methodology, which incorporates detailed building information and analyses to characterize the seismic hazard, structural response, earthquake damage, and repair/reconstruction costs. The analyses are informed by and include information from other working groups of the Project to: (1) summarize past research on performance of wood-frame houses; (2) identify construction features to characterize alternative variants of wood-frame houses; (3) characterize earthquake hazard and ground motions in California; (4) conduct laboratory tests of cripple wall panels, wood-frame wall subassemblies and sill anchorages; and (5) validate the component loss models with data from insurance claims adjustors. Damage functions are developed for a set of wood-frame building variants that are distinguished by the number of stories (one- versus two-story), era (age) of construction, interior wall and ceiling materials, exterior cladding material, and height of the cripple walls. The variant houses are evaluated using seismic hazard information and ground motions for several California locations, which were chosen to represent the range seismicity conditions and retrofit design classifications outlined in the FEMA P-1100 guidelines for seismic retrofit. The resulting loss models for the Index Building variants are expressed in terms of three outputs: Mean Loss Curves (damage functions), relating expected loss (repair cost) to ground-motion shaking intensity, Expected Annual Loss, describing the expected (mean) loss at a specific building location due to the risk of earthquake damage, calculated on an annualized basis, and Expected RC250 Loss, which is the cost of repairing damage due to earthquake ground shaking with a return period of 250 years (20% chance of exceedance in 50 years). The loss curves demonstrate the effect of seismic retrofit by comparing losses in the existing (unretrofitted) and retrofitted condition across a range of seismic intensities. The general findings and observations demonstrate: (1) cripple walls in houses with exterior wood siding are more vulnerable than ones with stucco siding to collapse and damage; (2) older pre-1945 houses with plaster on wood lath interior walls are more susceptible to damage and losses than more recent houses with gypsum wallboard interiors; (3) two-story houses are more vulnerable than one-story houses; (4) taller (e.g., 6-ft-tall) cripple walls are generally less vulnerable to damage and collapse than shorter (e.g., 2-ft-tall) cripple walls; (5) houses with deficient stem wall connections are generally observed to be less vulnerable to earthquake damage than equivalent unretrofitted cripple walls with the same superstructure; and (6) the overall risk of losses and the benefits of cripple wall retrofit are larger for sites with higher seismicity. As summarized in the report, seismic retrofit of unbraced cripple walls can significantly reduce the risk of earthquake damage and repair costs, with reductions in Expected RC250 Loss risk of up to 50% of the house replacement value for an older house with wood-frame siding at locations of high seismicity. In addition to the reduction in repair cost risk, the seismic retrofit has an important additional benefit to reduce the risk of major damage that can displace residents from their house for many months.
APA, Harvard, Vancouver, ISO, and other styles
2

Sommer, Steven S. Do Structural Missense Variants in the ATM Gene Found in Women With Breast Cancer Cause Breast Cancer in Knock-in" Mouse Strains?". Fort Belvoir, VA: Defense Technical Information Center, April 2006. http://dx.doi.org/10.21236/ada458176.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Zaman, Saeed. A Unified Framework to Estimate Macroeconomic Stars. Federal Reserve Bank of Cleveland, May 2024. http://dx.doi.org/10.26509/frbc-wp-202123r2.

Full text
Abstract:
This paper develops a semi-structural model to jointly estimate “stars” — long-run levels of output (its growth rate), the unemployment rate, the real interest rate, productivity growth, price inflation, and wage inflation. It features links between survey expectations and stars, time-variation in macroeconomic relationships, and stochastic volatility. Survey data help discipline stars' estimates and have been crucial in estimating a high-dimensional model since the pandemic. The model has desirable real-time properties, competitive forecasting performance, and superior fit to the data compared to variants without the empirical features mentioned above. The by-products are estimates of various objects of great interest to the broader profession.
APA, Harvard, Vancouver, ISO, and other styles
4

Chesher, Andrew. Identification of Structural Functions when Endogenous Variabls are Discrete". The IFS, January 2009. http://dx.doi.org/10.1920/re.ifs.2024.0740.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Petrova, Katerina. On the Validity of Classical and Bayesian DSGE-Based Inference. Federal Reserve Bank of New York, January 2024. http://dx.doi.org/10.59576/sr.1084.

Full text
Abstract:
This paper studies large sample classical and Bayesian inference in a prototypical linear DSGE model and demonstrates that inference on the structural parameters based on a Gaussian likelihood is unaffected by departures from Gaussianity of the structural shocks. This surprising result is due to a cancellation in the asymptotic variance resulting into a generalized information equality for the block corresponding to the structural parameters. The underlying reason for the cancellation is the certainty equivalence property of the linear rational expectation model. The main implication of this result is that classical and Bayesian Gaussian inference achieve a semi-parametric efficiency bound and there is no need for a “sandwich-form” correction of the asymptotic variance of the structural parameters. Consequently, MLE-based confidence intervals and Bayesian credible sets of the deep parameters based on a Gaussian likelihood have correct asymptotic coverage even when the structural shocks are non-Gaussian. On the other hand, inference on the reduced-form parameters characterizing the volatility of the shocks is invalid whenever the structural shocks have a non-Gaussian density and the paper proposes a simple Metropolis-within-Gibbs algorithm that achieves correct large sample inference for the volatility parameters.
APA, Harvard, Vancouver, ISO, and other styles
6

Read, Matthew. Sign Restrictions and Supply-demand Decompositions of Inflation. Reserve Bank of Australia, August 2024. http://dx.doi.org/10.47688/rdp2024-05.

Full text
Abstract:
Policymakers are often interested in the degree to which changes in prices are driven by shocks to supply or demand. One way to estimate the contributions of these shocks is with a structural vector autoregression identified using sign restrictions on the slopes of demand and supply curves. The appeal of this approach is that it relies on uncontroversial assumptions. However, sign restrictions only identify decompositions up to a set. I characterise the conditions under which these sets are informative, examining both historical decompositions (contributions to outcomes) and forecast error variance decompositions (contributions to variances). I use this framework to estimate the contributions of supply and demand shocks to inflation in the United States. While the sign restrictions yield sharp conclusions about the drivers of inflation in some expenditure categories, they tend to yield uninformative decompositions of aggregate inflation. A 'bottom-up' decomposition of aggregate inflation is less informative than a decomposition that uses the aggregate data directly.
APA, Harvard, Vancouver, ISO, and other styles
7

Smith, H. A. Adaptive Control of Smart Structures with Time Variant Stiffness and Damping. Fort Belvoir, VA: Defense Technical Information Center, March 1997. http://dx.doi.org/10.21236/ada326843.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Zyphur, Michael. Dynamic Structural Equation Modeling in Mplus. Instats Inc., 2023. http://dx.doi.org/10.61700/aypvl8azm5nlr469.

Full text
Abstract:
This seminar will show you how to model longitudinal panel data as a multilevel model with contemporaneous and lagged effects. This type of dynamic SEM (DSEM) allows separating the stable and unstable components of observed variables, offering advantages such as including lagged effects to assess predictive forms of causality, as well as random slopes and variances to reflect individual differences in effects and volatility. The seminar covers this with hands-on examples that you can apply in your research. An official Instats certificate of completion is provided and the seminar offers 2 ECTS Equivalent points for European PhD students.
APA, Harvard, Vancouver, ISO, and other styles
9

Srivastava, Shiv. Structure and Function of the Splice Variants of TMPRSS2-ERG, a Prevalent Genomic Alteration in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2009. http://dx.doi.org/10.21236/ada517260.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Srivastava, Shiv. Structure and Function of the Splice Variants of TMPRSS2-ERG, a Prevalent Genomic Alteration in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2012. http://dx.doi.org/10.21236/ada566991.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Structural variants' for particular source types:
Journal articles Dissertations / Theses Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography