Academic literature on the topic 'Exoma'
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Journal articles on the topic "Exoma"
Tonelli, Fernanda M. P., and Rodrigo R. Resende. "O OUTUBRO ROSA E O SEQUENCIAMENTO COMPLETO DE EXOMA." Nanocell News 2, no. 2 (2014): n/a. http://dx.doi.org/10.15729/nanocellnews.2014.10.19.002.
Full textPérez-Niño, Jaime José, Gisela Barros-García, María Fernanda Garcés, Jorge Eduardo Caminos, María Brion, and Eduardo Humberto Beltrán-Dussán. "Estudio molecular del síndrome de plaqueta pegajosa mediante secuenciación de exoma." Revista de la Facultad de Medicina 69, no. 3 (2021): e76806. http://dx.doi.org/10.15446/revfacmed.v69n3.76806.
Full textMartos Moreno, G. Á., B. Rodríguez-Santiago, L. González Gutiérrez-Solana, L. A. Pérez-Jurado, and J. Argente. "Síndrome de Bardet-Biedl: Aplicación diagnóstica de la secuenciación del exoma." Anales de Pediatría 80, no. 3 (2014): e100-e101. http://dx.doi.org/10.1016/j.anpedi.2013.09.005.
Full textRedal, Dra María Ana, Dra Ariana González, Dr Gabriel Marsango, Dra Maria Florencia Trevisani, and Dra Maria Angélica Moussalli. "Implicancias Farmacogenómicas del Estudio de Exoma en Oftalmogenética. Reporte de Caso." Highlights of Ophthalmology 49, no. 1ESP (2021): 4–9. http://dx.doi.org/10.5005/hos-10101-49101.
Full textYamamoto, Pedro Kenzo, Nicássia Sousa Oliveira, Geissiane de Moraes Marcondes, et al. "Caracterização de uma nova mutação com perda de função do gene Kmt2d em camundongos." Revista de Educação Continuada em Medicina Veterinária e Zootecnia do CRMV-SP 16, no. 1 (2018): 8–14. http://dx.doi.org/10.36440/recmvz.v16i1.37709.
Full textMelo, Débora Gusmão, Rui Fernando Pilotto, Stephania Araújo Rodrigues, Lucimar Retto da Silva De Avó, and Carla Maria Ramos Germano. "Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento." Saúde e Desenvolvimento Humano 6, no. 3 (2018): 73. http://dx.doi.org/10.18316/sdh.v6i3.4217.
Full textGarzón Venegas, Eliana del Pliar, Cladelis Rubio Gómez, Suleima Carpeta Sánchez, et al. "Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso." Revista Repertorio de Medicina y Cirugía 27, no. 1 (2018): 39–43. http://dx.doi.org/10.31260/repertmedcir.v27.n1.2018.131.
Full textFilho, Elísio Roberto de Oliveira. "Miopatia Proximal, uma variante patogênica no Éxon 12 do Gene FLNC." Revista Eletrônica Acervo Científico 31 (July 20, 2021): e8281. http://dx.doi.org/10.25248/reac.e8281.2021.
Full textUrioste, Miguel, and Javier Benítez. "Cuando el cáncer es una enfermedad rara." Arbor 194, no. 789 (2018): 464. http://dx.doi.org/10.3989/arbor.2018.789n3006.
Full textAcosta-Aragón, María Amparo, Stephany Arias-Linthon, and Juan Camilo Tobar-Solarte. "Síndrome CHARGE: reporte de caso." Medicina y Laboratorio 25, no. 1 (2020): 441–47. http://dx.doi.org/10.36384/01232576.356.
Full textDissertations / Theses on the topic "Exoma"
Borges, Murilo Guimarães 1989. "Aplicação de protocolos e métodos em bioinformática para análise de sequenciamento de exomas humanos = Application of bioinformatics protocols and methods for human exome sequencing analysis." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312725.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: Os avanços técnicos em sequenciamento alcançados em menos de uma década, atrelados ao desenvolvimento e barateamento do sequenciamento de alto desempenho, oferecem-nos a possibilidade de aplicação dessas tecnologias na medicina genômica. Nesse contexto, surge o sequenciamento do exoma humano, constituído das regiões codificantes do genoma, menor que 2% de sua totalidade. O sequenciamento do exoma (WES) se estabelece hoje como uma ferramenta custo-efetiva com a finalidade de identificar variantes de sequência relacionadas a várias doenças humanas. A análise através da bioinformática é essencial para lidar com o alto volume de dados gerados e realizar a ligação entre o experimento biológico e os dados obtidos. Objetivo: Aplicar e avaliar protocolos e aplicações disponíveis na análise dos dados gerados pelo sequenciamento de exomas humanos, bem como aplicar e aperfeiçoar protocolos e aplicações disponíveis para predizer variantes como potencialmente patológicas a partir de dados gerados pelo sequenciamento de exomas humanos. Materiais e métodos: Foram utilizadas as seguintes ferramentas: FastQC, Rqc, BWA, Picard, GATK e VEP. Estas foram então aplicadas às sequências do exoma humano possibilitando a identificação de variações nos perfis de qualidade das sequências, realinhamento local ao redor de inserções e deleções, recalibração da qualidade e posterior chamada das variantes potencialmente envolvidas nos fenótipos em estudo. No intuito de avaliar se a cobertura no exoma sofre variações mediante diferenças técnicas e étnicas, selecionamos amostras do Projeto 1000 Genomas. Resultados: A aplicação de nosso protocolo em 27 amostras WES resultou em gráficos de controle de qualidade pré e pós-alinhamento, que nos permitiram avaliar de modo global os perfis de qualidade destas sequências; realinhamento ao redor de inserções e deleções que ocorreu em mais de 15% da definição do exoma, realinhando mais de 79% das sequências; recalibração da qualidade que nos permitiu minimizar sua variação por ciclo da reação. Das sequências empregadas, 72% foram pareadas ao genoma, contudo 46% se estendem para fora da definição do exoma, com uma cobertura média de 59x para o exoma estendido e 66x para o exoma restrito. Temos que a cobertura para WES possui uma tendência a variar de acordo com a metodologia de captura empregada e ao grupo étnico de onde as amostras foram obtidas. Conclusão: A aplicação de um workflow para interrogação de variantes que considera a qualidade das sequências fornecidas pelo sequenciador, o alinhamento contra o genoma, realinhamento ao redor de regiões sabidamente conhecidas como portadoras de variações, recalibração da qualidade e anotação permitiu identificar variantes de sequência. Além disso, através da cobertura obtida pelo sequenciamento do exoma foi possível perceber diferenças técnicas e populacionais, refletindo que a complexidade do genoma pode interferir na reação de captura das sequências, influenciando na efetividade da técnica empregada
Abstract: The technical advances in sequencing made in less than a decade associated with the development and low costs of high throughput sequencing techniques allow their application in genomic medicine. Therefore, Whole Exome Sequencing (WES), which corresponds to less than 2% of the entire genome, emerges as a cost-effective tool that aims to identify variants related to human diseases. Bioinformatics is fundamental to process the big volume of data and link the obtained results with the biology. Objective: We aim to apply and evaluate protocols and applications designed for WES data analysis on human subjects. We also intend to apply and enhance protocols and applications designed to predict variants as potentially pathological from WES data. Materials and Methods: We used the following tools: FastQC, Rqc, BWA, Picard, GATK e VEP. We applied them to exome data, determining variation in quality profiles, local realignment, quality recalibration and variant calls. We also evaluated whether or not technical and population differences affect the depth profiles of samples from the 1000 Genomes Project. Results: We applied our protocol on 27 samples, resulting in pre and post-alignment quality control charts. Local realignment took place at more than 15% of the exome definition, extending to more than 79% of sequences. Quality recalibration minimized per cycle variation. In total, 72% of the sequences were paired against the genome, nevertheless 46% extended off-target. The mean coverage was 59X for the exome. We also detected that depth tends to vary based on technical and population differences between samples. Conclusion: We applied a variant-calling workflow that accounts for sequence quality, the alignment against the genome, local realignment, quality recalibration and annotation. In addition, we concluded that depth depends on technical and population differences, showing that genomic complexity may interfere with the capturing phase, affecting downstream analyses
Mestrado
Fisiopatologia Médica
Mestre em Ciências
Lima, Yasmin Soares de. "Painel de exoma direcionado como diagnóstico molecular para pacientes com deficiência auditiva sindrômica." reponame:Repositório Institucional da UnB, 2017. http://repositorio.unb.br/handle/10482/24878.
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A deficiência auditiva é o distúrbio sensorial mais comum no mundo. No Brasil, cerca de 5% da população apresenta algum tipo de deficiência auditiva e 1,12% declaram não ouvir som algum. Aproximadamente 50-60% dos casos de deficiência auditiva no mundo possuem uma etiologia genética. Destes, 30% são sindrômicos, sendo que mais de 100 genes j á foram associados com a deficiência auditiva não sindrômica. Painéis baseados em sequenciamento de nova geração vêm sendo comumente utilizados na busca da etiologia genética da deficiência auditiva não sindrômica e outras doenças genéticas, demonstrando-se ser uma eficaz ferramenta. Nesse trabalho, propusemos um painel Ion Ampliseq™ customizado especialmente para a deficiência auditiva sindrômica contendo 51 genes associados às síndromes mais comuns somado ao gene GJB2, principal causa de deficiência auditiva não sindrômica. Pacientes com e sem diagnóstico clínico foram selecionados. Dos 26 pacientes sequenciados com êxito, foram encontradas mutações potencialmente causativas em nove deles, todos com diagnóstico clínico prévio, enquanto foi possível realizar o diagnóstico molecular em seis, obtendo-se uma taxa diagnóstica de 23%. Foram identificadas cinco mutações sem sentido, duas de sentido trocado e duas frameshift. O painel demonstrou maior efetividade em realizar o diagnóstico molecular em pacientes com diagnóstico clínico em comparação aos pacientes sem diagnóstico clínico, com exceção a Síndrome Óculo-Aurículo-Vertebral, em que não foram encontradas mutações potencialmente causativas nos genes propostos incluídos no painel. Em conclusão, o painel demonstrou efetividade na realização do diagnóstico molecular especialmente para aqueles com diagnóstico clínico. A grande heterogeneidade genética, o envolvimento de genes ainda não identificados, e consequentemente, não incluídos no painel, além da não cobertura de regiões intrônicas e/ou reguladoras podem estar envolvidas na não identificação de variantes que pudessem determinar o quadro dos demais pacientes. Ainda, foi proposto de um fluxograma de abordagem diagnóstica baseado nos resultados observados neste trabalho.
Hearing impairment is the most common sensory disorder in the world. In Brazil, about 5% of the population has some type of hearing loss and 1.12% declares not hearing any sound. Approximately 50-60% of the world's hearing loss cases have a genetic etiology. 30% of these cases are syndromic, and more than 100 genes have been associated with non-syndromic hearing loss. Panels based on next generation sequencing have been commonly used in the search for the genetic etiology of non-syndromic hearing loss and other genetic disorders, proving to be an effective tool. In this work, we proposed a specially designed Ion Ampliseq ™ panel for syndromic hearing loss containing 51 genes associated with the most common syndromes plus the GJB2 gene, the main cause of non-syndromic hearing loss. Patients with and without clinical diagnosis were selected. From the 26 successfully sequenced patients, potentially causative mutations were found in nine of them, all with a previous clinical diagnosis, while it was possible to perform the molecular diagnosis in six of them, obtaining a diagnostic rate of 23%. We identified five nonsenses mutations, two missenses and two frameshift. The panel demonstrated greater effectiveness in performing the molecular diagnosis in patients with clinical diagnosis compared to patients without clinical diagnosis, except for Oculo-Auriculo- Vertebral Syndrome, in which no potentially causative mutations were found in the proposed genes included in the panel. In conclusion, the panel demonstrated effectiveness in performing the molecular diagnosis especially for those with clinical diagnosis. The large genetic heterogeneity, the involvement of unidentified genes, and consequently, not included in the panel, besides the non-coverage of intronic and / or regulatory regions may be involved in the non-identification of variants that could diagnosticate the other patients. In addition, a flowchart of a diagnostic approach was proposed, based on the results observed in this study.
Carneiro, Thaise Nayane Ribeiro. "Identificação da etiologia da deficiência intelectual esporádica por sequenciamento de exomas de afetados e seus pais." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-28032017-153312/.
Full textIntellectual disability (ID), associated or not with other congenital abnormalities, is the most frequent reason for families to seek genetic counseling. Until some years ago, karyotyping, metabolic disease and FRAXA screening elucidated only ∼40% of patients with idiopathic ID. Importantly, with the introduction of genomic arrays, the molecular cause behind a further ∼20% of ID cases was determined; however, despite this improvement, many patients are still not provided with a clear molecular explanation and cause for their phenotype. Nowadays, whole exome sequencing (WES) is one of the methods available for diagnosis and a further means of possible elucidation of the genetic causes of idiopathic intellectual disability; in many cases this method also allows identification of genes that have not been previously related to ID. In the present project, we sequenced the exome (WES) of 8 sporadic patients that all had ID, with or without other clinical signs, and their unaffected parents (trios); these patients had been previously screened for fragile X syndrome and for losses and gains of chromosomal segments by array CGH, both with negative results. The objective of this study was to detect mutations and possibly new genes associated with ID, using pipelines for Mendelian inheritance patterns. Thirteen mutations in 9candidate genes were detected by exome sequencing and confirmed by Sanger sequencing, among them 8 biallelic mutations in autossomal recessive genes (TBC1D24, ADAMTSL2, NALCN, VPS13B), one mutation in an X-linked gene (MID1), and 4 de novo alterations (RYR2, GABBR2, CDK13, DDX3X); 5 of these mutations had not been described in the databases consulted characterizing new variants. Of the 8 trios, we obtained a probable diagnosis of the molecular alteration responsible for the presented phenotypes in 5. Two of these cases were in recessive genes (homozygous mutations or compound heterozygous), and the mutations would probably have been detected even if only the probands had been sequenced. However, for the heterozygous mutations, the assessment of the parents and the confirmation of the de novo status of the mutation was important to evaluate the impact of the variant. This work resulted in a diagnosis rate of 62.5%; even considering the small sample size, this value is well above the average of 15-30% reported in the literature when the methodology used for the study of ID sporadic cases is considered. In two cases, mutations were detected in genes only recently described as mutated and which are not considered yet as OMIM ID genes. The CDK13 gene had already been described as mutated in a single cohort of patients with syndromic congenital heart defects, but its contribution to ID cohorts has not been established. The GABBR2 gene, where a heterozygous mutation was identified in the patient, had already been considered a potential candidate for ID; there are only 2 studies that detected mutations in this gene among patients with ID and epilepsy. This contribution may pave the way to establishing GABBR2 and CDK13 as causations of ID and acceptance by OMIM
Carreño, Gago Lidia. "Configuración de una estrategia para la identificación genético-molecular de pacientes con enfermedad mitocondrial." Doctoral thesis, Universitat Autònoma de Barcelona, 2017. http://hdl.handle.net/10803/458673.
Full textThe mitochondrial disorders (MD) are a group of inherited metabolic diseases characterized by an alteration in the correct function of the mitochondria, mainly due to deficiencies of the oxidative phosphorylation system. These diseases are genetically and clinical heterogenic, due to their dual genetic origin (they can be caused due to mutations in the nuclear and in the mitochondrial genome) and their great phenotypic variability (the disease can affect only one organ or it can be multisystemic). Many times this group of disorders lacks of a genotype-phenotype correlation, since the same mutation can generate different phenotypes, and one specific phenotype can be caused by mutations in different genes, and this fact hampers the genetic diagnose of these disorders. The hypothesis of this thesis proposes that the use of the next generation sequencing (NGS) technologies in the genetic diagnostic of the MD will improve its performance. The use of the NGS in the diagnostic of these diseases will allow the detection of new point mutations in genes already described. Furthermore, the diagnostic through NGS also will allow to associate genes related with a specific MD to new phenotypes, or even to discover new genes causing MD, thus expanding the genetic and phenotypic spectrum of MD and improving the performance of the genetic diagnostic. In the present work we have integrated massive sequencing analysis of mitochondrial and nuclear genes to the diagnostic of patients with MD. We have set up and validated the complete mitochondrial DNA (mtDNA) sequencing that has enabled us to detect low levels of mtDNA heteroplasmy. Furthermore, the covering homogeneity of the complete mtDNA molecule has been optimized. This methodology has allowed us to precisely determine the concrete deleted sequences in single mtDNA deletions. Additionally, we have designed à la carte and validated a panel of genes directly related to mtDNA maintenance for diagnostic purposes. In patients with MD the clinic (n=8) and complete (n=9) exomes have been studied and analyzed. In this regard, new potentially mutagenic variants in both nuclear and mitochondrial DNA genes have been completely characterized, as well as potential phenotypic modulator variants in Non-Syndromic Sensoryneural Hearing Loss patients carrying the homoplasmic m.1555A>G mutation in the MTRNR1 gene. The application of the massive sequencing analysis technique in the diagnosis of these MD has represented an increase in the diagnosis efficiency, specially in those patients that had been well characterized clinically. MtDNA sequencing has allowed the detection in peripheric blood samples of pathogenic variants with a very low degree of heteroplasmy that were not previously detected by the classic Sanger sequencing, reducing the necessity of performing a muscle biopsy. In the complete mtDNA sequencing study, we have detected pathogenic variants that had not been previously associated to the phenotype of the patients. Additionally, the application of the genes panel related with mtDNA maintenance has proven to be very efficient, specially in those patients with multiple mtDNA deletions, being the POLG and TK2 the most representative in those patients. The clinic exome study in patients with Leigh syndrome has allowed us to genetically diagnose 2 out of 6 patients studied. Finally, in two patients with multi-enzymatic deficit of the oxidative phosphorylation system, we have found new potentially pathogenic variants, one in a gene previously associated with the YARS2 clinical phenotype, while the other in a mitochondrial gene previously not associated to any MD.
Cunha, Thalita Cristina Figueiredo. "Investigação genética de casos de deficiência intelectual em populações consanguíneas do sertão paraibano." Universidade Federal da Paraíba, 2015. http://tede.biblioteca.ufpb.br:8080/handle/tede/9816.
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A part of the populations in Northeastern Brazil are relatively isolated geographically and these populations maintain the tradition of consanguineous marriages for generations. These two factors (isolation and inbreeding) increase the risk of birth of people with autosomal recessive intellectual disabilities. The objective of this study was to determine the genetic causes of intellectual disabilities in two large consanguineous families of Paraiba backlands. In 2012, we conducted an epidemiological study to investigate the contribution of genetic factors in determining the deficiencies in six municipalities of Paraíba previously selected by presenting high consanguinity rate. Families who had patients with neurodegenerative disorders and/or intellectual disabilities (ID) were invited by community health agents for a first screening realized by biologists in order to select patients with deficiency probably caused by genetic mutations. In total, 276 patients were screened, of which, 109 were selected for medical evaluation with neurologists. After medical evaluation, two families with multiple affected individuals in two different forms of autosomal recessive intellectual disability were selected for clinical and genetic research. We performed the linkage study using SNPs array analysis to determine homozygous regions. Subsequently, the whole exome sequencing (WES) of one affected individual of each family was sequenciated. Potentially deleterious variants detected in regions of homozigosity-by descent which were not present in Brazilian population controls or in exomes of global online databases were subject to further scrutiny and segregation analysis by Sanger sequencing. Family A has seven adult siblings with syndromic ID. Phenotype includes tall forehead, prognatism, prominent chin, very large and overhanging nose tip. Homozigosity-by-descent analysis found a 4.0 Mb region in 19q13.32-q13.33 (lod score: 3.24). WES disclosed a homozygous variant (c.418C>T, p.Arg140Trp) in mediator complex subunit 25 (MED25), predicted as deleterious by Provean, Mutation Taster, PolyPhen-2 and SIFT. MED25 is a component of the Mediator complex, involved in regulation of transcription of nearly all RNA polymerase II-dependent genes. Deleterious mutations in MED12, MED17, MED23 and recently after our publication another mutation in the MED25 have been associated with ID. Family B has nine affected adults descending from four closely related first-cousin couples affected by severe non-syndromic ID. Homozigosity-by-descent analysis disclosed a 20.7 Mb region in 8q12.3-q21.2 (lod score: 3.11). WES identified a homozygous deleterious variant in inositol monophosphatase1 gene (IMPA1), consisting of a 5 bp duplication (c.489_493dupGGGCT) leading to frameshift (p.Ser165Trpfs*10). IMPA1 gene product is responsible for the final step of biotransformation of inositol triphosphate and diacylglycerol, two second messengers, and up to now, despite its many physiological functions, no clinical phenotype has been assigned to this gene dysfunction. From this study, it was possible to develop diagnostic test by restriction enzyme and therapeutic perspective for cases associated with IMPA1.
Uma parte das populações do Nordeste brasileiro está relativamente isolada geograficamente e mantêm, há várias gerações, a tradição de casamentos consanguíneos. Esses dois fatores associados (isolamento e endocruzamento) elevam o risco de nascimento de pessoas com deficiência intelectual com herança genética autossômica recessiva. O objetivo deste trabalho foi determinar as causas genéticas da deficiência intelectual em duas grandes famílias consanguíneas do sertão paraibano. Em 2012, nosso grupo de pesquisa realizou um estudo epidemiológico para determinar a contribuição de fatores genéticos na determinação das deficiências em seis municípios do sertão paraibano selecionados previamente por apresentarem elevada taxa de consanguinidade. As famílias que apresentavam repetições de indivíduos com doenças neurodegenerativas e/ou deficiência intelectual (DI) foram convocadas pelos agentes comunitários de saúde para uma primeira triagem, realizada pelos biólogos geneticistas, a fim de selecionar pacientes que apresentavam deficiência por prováveis causas genéticas. No total, foram triados 276 pacientes, sendo que, 109 foram selecionados para avaliação médica com neurologistas. Após a avaliação médica, duas famílias com múltiplos indivíduos acometidos por duas diferentes formas de DI de herança autossômica recessiva foram selecionadas para investigação clínico-genética. O estudo de ligação para determinar regiões em homozigose foi realizado com o uso da técnica de array de SNPs. Posteriormente, foi feito o sequenciamento do exoma completo de um indivíduo afetado de cada família. Variantes potencialmente deletérias detectadas em regiões em homozigose e que não estavam presentes em controles brasileiros e em banco de dados mundiais, foram objetos de uma análise mais aprofundada e feito a análise de co-segregação através do sequenciamento de Sanger. A primeira família estudada, a família A, possui sete adultos com DI sindrômica. O fenótipo inclui testa alta, prognatismo, queixo proeminente e ponta do nariz saliente, além da DI grave. O estudo de ligação apontou duas regiões com LOD scores máximos = 3,234, uma região de 26 Mb no cromossomo 2 (2p12 - q11.2) e uma região de 4,0 Mb no cromossomo 19 (19q13.32 - q13.33). O sequenciamento do exoma revelou uma variante em homozigose (c.418C>T, p.Arg140Trp) no gene MED25 (subunidade 25 do complexo mediador), predita como deletéria por diferentes softwares (Polyphen, Provean, Mutation Taster e SIFT). O complexo mediador está envolvido na regulação da transcrição de quase todos os genes dependentes da RNA polimerase II. Mutações deletérias nos genes MED12, MED17, MED23 e, recentemente, outra mutação no MED25, têm sido associadas com DI. Já a segunda família estudada, a família B, possui nove adultos afetados, descendentes de quatro relações consanguíneas entre primos de primeiro grau, com DI grave não-sindrômica. O estudo de ligação apontou uma região de 20,7 Mb no cromossomo 8 (8q12.3-q21.2) com LOD score = 3,11. O sequenciamento do exoma identificou uma variante deletéria em homozigose no gene inositol monofosfatase1 (IMPA1), que consiste em uma duplicação de 5 pares de bases (c.489_483dupGGGCT), levando a uma mutação do tipo frameshift (p.Ser165Trpfs*10). O produto do gene IMPA1 é uma enzima responsável pela etapa final da biotransformação dos segundos mensageiros inositol trifosfato e diacilglicerol, e até o momento, apesar de apresentar importantes funções fisiológicas, não havia fenótipo clínico atribuído a esse gene. A partir deste estudo, foi possível desenvolver teste diagnóstico com triagem por enzima de restrição e perspectiva de tratamento terapêutico para os casos associados ao IMPA1.
Bogliolo, Massimo. "Secuenciación del exoma en anemia de Fanconi: del diagnóstico al descubrimiento de un nuevo gen." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/325160.
Full textFanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. 19 FA-associated proteins are involved in the repair of DNA interstrand crosslinks (ICLs). Molecular diagnosis is a capital issue for FA patients and their families. The characterization of the mutations allows prenatal and preimplantacional diagnosis, permit to identify carriers in FA families and to rule out the disease in related donors’ bone marrow transplantation (BMT). Mutations can be used as markers to monitor the success of BMT and their characterization is also required for the development of new therapies such as gene therapy or the latest techniques of "genome editing" to correct the defect in the mutated FA gene. Due to the genetic heterogeneity of FA the identification of the mutated gene in a given FA patient can require several months of highly specialized work. The use of the latest Next Generation Sequencing technologies such as whole exome sequencing (WES) could be a valid alternative to subtype and molecularly characterize all FA patients regardless of their complementation groups. In this study we present the results of the molecular characterization of 49 FA patients using WES. To simplify even more the molecular diagnosis process, we used a commercial kit for target enrichment of our samples and we characterized large deletions by coverage analysis. All mutations found were confirmed by Sanger sequencing or Multiplex ligation-dependent probe amplification (MLPA). We were able to completely characterize 42 out of 49 patients (85,7%) and 90 out of 97 mutated alleles (92,8%) thus demonstrating the potential of WES in FA molecular characterization. WES of unclassified FA individuals allowed us to discover biallelic germline mutations in ERCC4 (XPF) as a cause of FA: ERCC4 encodes for XPF a structure-specific nuclease- previously connected to nucleotide excision repair (NER) and to Xeroderma pigmentosum and XFE progeroid syndromes. Genetic reversion with wild-type ERCC4 cDNA of FA cell lines phenotype, provided genetic evidence that mutations in ERCC4 cause this FA subtype (FA-Q). Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising NER. Our data show that depending on the type of ERCC4 mutations and the resulting balance between both DNA repair activities, individuals present with one of three clinically distinct disorders, highlighting the multifunctional nature of the XPF endonuclease in genome stability and human disease. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11coding exons and exon–intron boundaries of ERCC4 in1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. The frequency of ERCC4 mutation carriers does not differ between cases and controls, suggesting that ERCC4 is not a cancer susceptibility gene. Interestingly, the prevalence of ERCC4 mutation carriers (1/288) is similar to that reported for FANCA, whereas there are approximately100-fold more FA-A than FA-Q patients, indicating that most biallelic combinations of ERCC4 mutations are embryo lethal. Finally, we identified additional ERCC4 mutations specifically disrupting ICL repair.
Pinheiro, Maísa. "Identificação de genes de predisposição à síndrome dos carcinomas de mama e tireoide por sequenciamento total do exoma." Botucatu, 2016. http://hdl.handle.net/11449/137932.
Full textResumo: A identificação de fatores de predisposição e a caracterização de fatores genéticos de risco para odesenvolvimento do câncer são essenciais para o diagnóstico, prognóstico e aconselhamento genéticodos pacientes afetados e seus familiares. Há uma alta incidência de pacientes que possuem carcinomasde mama (CM) e/ou carcinoma de tireoide (CT) e com história familial destes tumores, sugerindo oenvolvimento de gene(s) associado(s) com a predisposição hereditária ao câncer. O objetivo destetrabalho foi investigar a presença de genes de predisposição ao desenvolvimento de CM e CT pormeio do sequenciamento total do exoma, em pacientes que sejam afetados por pelo menos um destestumores e possuam história familial de câncer. Foram incluídas seis pacientes que apresentavam CM,12 com CT e seis com ambos os tumores, todos com história destes tumores em suas famílias. O DNAde sangue periférico foi sequenciado pela plataforma HiSeq 1000 (Illumina). Após análise debioinformática foram identificadas alterações em genes de alta e baixa penetrância comuns e raras. Asalterações raras destes genes foram consideradas como patogênicas quando presentes em pelo menostrês bancos de dados e em até dois indivíduos. A paciente 14 teve diagnóstico de síndrome de Cowdenconfirmado pela presença da mutação p.R233X no gene PTEN. Também foram investigadas outrasalterações em novos genes o que resultou em 911 SNVs (single nucleotide variations), sendo 287 não-sinônimas e 50 alteraç... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The identification of predisposing genes and characterization of genetic risk factors for cancer development are essential for the diagnosis, prognosis and genetic counseling of affected patients and their families. A significant number of patients with breast (BC) and papillary thyroid carcinomas (TC) and family history of these tumors suggest the involvement a hereditary cancer predisposition gene. The aim of this study was to evaluate new predisposing genes related to BC and TC by whole exome sequencing, in patients who are affected by at least one of these tumors and have cancer family history. Six patients with CM, 12 with CT and six with both tumors were included in the study, all of them with family history of these tumors. DNA from peripheral blood sample was sequenced by HiSeq 1000 platform (Illumina). After the bioinformatics analysis, variations in high and lowpenetrance genes were identified; most of them were considered common according to 1000 Genomes and 6500 Exomes. Furthermore, rare variations were described in these genes, which were considered pathogenic in at least three databases and observed in up to two patients. Patient 14 presented the p.R233X mutation in PTEN confirming the diagnosis of Cowden Syndrome. Other genes were investigated in order to characterize new variations related to the phenotype studied. This analysis resulted in 911 SNVs (single nucleotide variations), 287 non-synonymous alterations and 50 rare pathogenic variations (detected in at... (Complete abstract click electronic access below)
Doutor
Leão, Delva Pereira. "Sequenciamento de nova geração : explorando aplicações clínicas de dados de Targeted Gene Panel e Whole Exome Sequencing." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2017. http://hdl.handle.net/10183/173625.
Full textNext-generation sequencing (NGS) technologies and its applications are increasingly used in medicine to elucidate the molecular basis of Mendelian diseases. Although it is a powerful research tool, there is still an important transition regarding data analysis between traditional sequencing techniques and NGS. The first part of this work addresses analytical aspects involved on this switch-over, focusing on the Ion Torrent Personal Genome Machine platform. This is a widely used platform for sequencing gene panels, as this application demands lower throughput of data. We present indicators suitable to evaluate quality of sequencing runs and also a strategy based on depth of coverage values to evaluate amplicon performance on different scenarios. On the other hand, NGS enabled large-scale population studies that are changing our understanding about human genetic variations. One of these examples are the so-called silent mutations, that are being implied as causative of human diseases. The second part of this work investigates the pathogenicity of synonymous single nucleotide polymorphisms (sSNP) based on public data obtained from the Exome Aggregation Consortium (ExAC) (exac.broadinstitute.org/) using the software Silent Variant Analysis (SilVA) (compbio.cs.toronto.edu/silva/) and other sources to gather additional information about affected protein domains, mRNA folding and functional consequences aiming to provide a landscape of harmfulness of sSNP on more than 60,000 human exomes. We show that from 1,691,045 synonymous variants a total of 26,034 were classified as pathogenic and by SilVA, with allele frequency lower than 0.05. In silico functional analysis revealed that pathogenic synonymous variants found are involved in important biological process, such as cellular regulation, metabolism and transport. By exposing a scenario of pathogenic synonymous variants on human exomes we conclude that filtering out sSNP on prioritization workflows is reasonable, although in some specific cases sSNP should be considered. Future research on this field will provide a clear picture of such variations on genetic diseases.
Pereira, Guilherme Luis [UNESP]. "Identificação de regiões cromossômicas, genes e polimorfismos de DNA associados ao desempenho de equinos de corrida da raça quarto de milha." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/150718.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Dentre os equinos selecionados para velocidade, a linhagem de corrida da raça Quarto de Milha se destaca pelo alto desempenho em provas de curtas distâncias, sendo considerados os mais velozes do mundo. Apesar de, no Brasil, o efetivo de animais ser relativamente menor na linhagem de corrida do que nas demais, sua importância econômica é substancial. Tendo em vista o interesse econômico e científico relacionado a esta característica atlética, poucos esforços têm sido realizados para a maior compreensão de seus mecanismos genéticos e fisiológicos. Este trabalho teve como objetivos: 1) realizar a imputação de genótipos em duas vias entre indivíduos de uma amostra populacional relativamente pequena de cavalos de corrida da raça Quarto de Milha genotipados com painéis de 54k ou de 65k, bem como avaliar a acurácia de imputação por meio de simulações; 2) realizar estudo de associação ampla do genoma (GWAS) em cavalos da linhagem de corrida da raça Quarto de Milha por meio da utilização de chips equinos de genotipagem de SNPs, visando a prospecção de regiões cromossômicas, genes e polimorfismos relacionados ao desempenho; 3) analisar exomas de equinos de corrida da raça Quarto de Milha contrastantes para Índice de Velocidade máximo (IV max) em regiões previamente associadas à característica por meio de GWAS, visando a prospecção de polimorfismos gênicos causais, ligados ou em forte desequilíbrio de ligação com o desempenho em corridas. A imputação foi realizada utilizando 116 cavalos genotipados com o arranjo de SNPs de 54k e 233 genotipados com arranjo de 65k. Nas simulações foram escolhidas amostras aleatórias para constituírem as populações imputadas e referências em dois cenários. O cenário A simulou a imputação genótipos na primeira via (65k para 54k) e o cenário B na segunda (54k para 65k). No cenário A foram considerados 113 indivíduos para a população referência e 236 para a imputada, dos quais 116 e 120 foram genotipados com os arranjos de 54k e 65k, respectivamente. No cenário B foram considerados 50 indivíduos para a população referência e 299 para a imputada, dos quais 66 e 233 foram genotipados com os arranjos de 54k e 65k, respectivamente. Com isso, após o controle de qualidade, os painéis de 54k e de 65k contaram com 7.048 e 16.940 marcadores exclusivos, respectivamente. As médias de taxa de concordância para os cenários A e B foram 0,9815 e 0,9751 e para r2 alélico foram 0,9791 e 0,9740, respectivamente. O GWAS foi realizado com base no método single step GBLUP por meio de duas abordagens: ssGWAS1, em que somente efeitos de SNPs são reestimados a cada iteração, e ssGWAS2, em que a cada iteração são reestimados efeitos de SNPs a partir de valores genético genômico (GEBVs) reestimados. Vinte e uma regiões foram encontradas explicando mais que 1% da variância genética total (gVar) da característica índice de velocidade máximo (IV max) para ssGWAS1 e doze parassGWAS2. No total mais de 40% da gVar foi explicada por estas regiões para ssGWAS1 e cerca de 30% para ssGWAS2. Entre os cromossomos que explicaram mais de 1% da variância genética, cinco foram comuns aos dois métodos (ECA 3, 10, 15, 22, 25). Foram identificados 108 genes na primeira abordagem e 59 na segunda. A partir de informações de GEBVs de cada cavalo foram formados dois grupos de animais contrastantes para desempenho em corridas (20 animais de IV max superior e 20 IV max inferior), para ser sequenciados. Foram observadas leituras de boa qualidade para toda extensão das reads sequenciadas (até 100pb) e cobertura média de 43x. Foram identificadas 1.203 variantes (1.105 SNPs e 93 InDels) em 33 regiões de interesse obtidas, anteriormente, por meio de estudo de GWAS, das quais 61,3% não estavam registradas/depositadas no banco de dados de variantes equino. Do total de polimorfismos, 29 (24 SNPs e 5 InDels) foram considerados de importância com base em três abordagens distintas e independentes: escores SIFT classificado como deletério (<0,05), grau de impacto na região consenso de cada polimorfismo, e frequências alélicas diferentes, identificadas pelo teste de Fisher (p< 0,01), entre os grupos de cavalos contrastantes para IV max. Com isso, oito genes descritos como candidatos em trabalhos anteriores (ABCG5, COL11A1, GEN1, SOCS3, MICAL1, SPTBN1, EPB41L3 e SHQ1), e oito genes candidatos novos (AKNA, ARMC2, FKBP15, LHX1, NOL10, TMEM192, ZFP37, FIG4 e HNRNPU) foram relacionados ao desempenho em corridas de cavalos da raça Quarto de Milha. Assim, os resultados obtidos neste trabalho mostraram que o desempenho em corridas na raça Quarto de Milha, dado pelo IV max, é característica quantitativa e que não há ocorrência de major genes.
Among horses selected for speed, the racing line of Quarter Horses is characterized by high performance in sprint races, with these animals being considered the fastest horses in the world. Although in Brazil the effective number of animals in the racing line is relatively smaller compared to the other lines, its economic importance is substantial. Despite economic and scientific interest in this athletic trait, few efforts have been made to better understand the genetic and physiological mechanisms underlying this trait. The objectives of this study were: 1) to perform two-step genotype imputation between individuals in a relatively small population sample of racing Quarter Horses genotyped with the 54k or 65k panel, and to evaluate the accuracy of imputation through simulations; 2) to perform genome-wide association studies (GWAS) in Quarter Horses of the racing line using equine SNP genotyping chips for prospecting chromosome regions, genes and polymorphisms related to performance; 3) analyze exomes and UTRs in regions previously associated with this trait by GWAS in Quarter Horse racehorses with contrasting maximum speed index (SImax), prospecting causal gene polymorphisms that are related to or are in strong linkage disequilibrium with racing performance. Genotypes were imputed using 116 horses genotyped with the 54k SNP array and 233 animals genotyped with the 65k array. For the simulations, random samples were chosen to compose the imputed and reference populations in two scenarios. Scenario A simulated the genotype imputation in the first step (from 65k to 54k) and scenario B in the second step (from 54k to 65k). Thus, after quality control, the 54k and 65k panels contained 7,048 and 16,940 exclusive markers, respectively. The mean concordance rate was 0.9815 and 0.9751 for scenarios A and B, and the mean allelic r2 was 0.9791 and 0.974, respectively. After imputation was performed by the single-step GBLUP method using two approaches: ssGWAS1 in which only SNP effects are recalculated at each iteration, and ssGWAS2 in which SNP effects are recalculated from genomic estimated breeding values (GEBVs) at each iteration. Twenty-one regions that explained more than 1% of the total genetic variance (gVar) in the maximum speed index were identified by ssGWAS1 and 12 by ssGWAS2. More than 40% of gVar was explained by these regions in ssGWAS1 and about 30% in ssGWAS2. Among chromosomes that explained more than 1% of genetic variance, five were common to both methods (ECA 3, 10, 15, 22, 25). A total of 108 genes were identified with the first approach and 59 with the second approach. To exome sequencing, GEBVs were used for the formation of two groups of animals with contrasting racing performance (20 animals with superior SI max and 20 with inferior SI max). Good quality data were obtained throughout the reads sequenced, with an average coverage of 43x. A total of 1,203 variants (1,105 SNPs and 93 InDels) were identified in 33 regions of interest obtained previously by GWAS; of these, 61.3% were not registered/deposited in the horse genomic variant database. Twenty-nine of the polymorphisms (24 SNPs and 5 InDels) were considered to be important based on three different and independent approaches: SIFT scores classified as deleterious (<0.05), degree of impact on the consensus region of each polymorphism, and different allele frequencies identified by Fisher’s exact test (p< 0.01) between the groups of horses with contrasting SImax. Thus, eight genes described as functional and positional candidates in previous studies (ABCG5, COL11A1, GEN1, SOCS3, MICAL1, SPTBN1, EPB41L3, and SHQ1) and eight new candidate genes (AKNA, ARMC2, FKBP15, LHX1, NOL10, TMEM192, ZFP37, FIG4, and HNRNPU), some of them with known function, were related to racing performance in Quarter Horses. Taken together, the present results show that the racing performance of Quarter Horses, given by the maximum speed index, is a quantitative trait and that no major genes exist.
Silva, Eduarda Morgana da. "Determinação da Base Molecular da Síndrome Ablefaria Macrostomia." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-112237/.
Full textAblepharon-Macrostomia Syndrome (AMS) is a rare condition characterised by absent or hypoplastic eyelids, absent eyebrows and eyelashes, macrostomia caused by fusion defects of the mouth with unfused lateral commissures, as well as other clinical features. The inheritance pattern has not been confirmed and while autosomal dominant inheritance with variable expressivity has been suggested, recessive inheritance has not been ruled out. The phenotype of AMS overlaps that of Barber-Say and Fraser Syndrome, but any reported gene for these syndromes is mutated on AMS patients. The genomic approach for rare disease studies has been widely used mainly due to the emergence of Next Generation Sequencing, which is very effective at determining nucleotide sequences with large coverage in a short period of time. The whole exome sequencing of five family members was undertaken, with three affected and two unaffected, and the coding regions of the individuals were subsequently analysed. The molecular basis of AMS is suggested here as autosomal dominant, and due to a novel non-synonymous mutation c.223G>A (p.E75K), in TWIST2 gene. This pathogenic mutation causes glutamic acid, a small negatively charged amino acid, to be substituted for a larger and positively charged lysine. The in silico protein modeling of Twist2 shows that the general 3D-structure of the protein is not affected, but the amino acid change is located inside the basic Helix-Loop-Helix domain which could disrupt dimerization and DNA binding. It has also been suggested that the phenotype heterogeneity associated with mutations on TWIST2 gene can be attributed to the interactions that this protein is capable of, and the role that it plays in the regulation of several developmental genes.
Books on the topic "Exoma"
Pavlidis, George T. The Exuma guide: A cruising guide to the Exuma Cays. 3rd ed. Seaworthy Publications, 2009.
Xemî ẍurbetîşt exom: Honrawe. Derbaz Yunis, 2008.
James, W. H. Exuma, the loyalist years, 1783-1834. W.H. James, 1988.
The Exuma guide: A cruising guide to the Exuma Cays : approaches, routes, anchorages, dive sights, flora, fauna, history, and lore of the Exuma Cays. 2nd ed. SeaWorthy Publications, 1997.
Pavlidis, George T. The Exuma guide: A cruising guide to the Exuma Cays : approaches, routes, anchorages, dive sights, flora, fauna, history, and lore of the Exuma Cays. Seaworthy Publications, 1995.
Patience, Gloria Marybelle Tetrizini Knowles Lewless. Gloria, the shark lady: Little Exuma, Hog Cay. Hibiscus Pens, 1994.
Valencia (Spain : Province). Diputación Provincial. Archivo. Guía del Archivo de la Excma. Diputación Provinical de Valencia. Generalitat Valenciana, Conselleria de Cultura, Educació i Ciència, 1990.
Pavlidis, George T. A cruising guide to the Exuma Cays Land and Sea Park: Approaches, routes, anchorages, flora, fauna, history, and lore of the Exuma Cays Land and Sea Park including sketch charts. Night Flyer Enterprises, 1994.
Zamora (Spain : Province). Excma. Diputación Provincial. Fondos de arte de la Diputación de Zamora. Diputación de Zamora, 1989.
Hospital, Gonzalo Ruiz. El gobierno de Gipuzkoa al servicio de su rey y bien de sus naturales: La Diputación Provincial de los fueros al liberalismo (siglos XVI-XIX). Diputación Foral de Gipuzkoa, Departamento de Cultura y Euskera, 1997.
Book chapters on the topic "Exoma"
Arnemann, J. "Exom-Sequenzierung." In Lexikon der Medizinischen Laboratoriumsdiagnostik. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3475-1.
Full textArnemann, J. "Exom-Sequenzierung." In Springer Reference Medizin. Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3475.
Full textChakravorty, Samya, Arunkanth Ankala, and Madhuri R. Hegde. "Implementation of Exome Sequencing Assay." In Genomic Applications in Pathology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-96830-8_17.
Full textAnkala, Arunkanth, and Madhuri R. Hegde. "Implementation of Exome Sequencing Assay." In Genomic Applications in Pathology. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0727-4_16.
Full textBruckner-Tuderman, Leena. "Bahnbrechende wissenschaftliche Entwicklungen – Exom Sequenzierung." In Fortschritte der praktischen Dermatologie und Venerologie 2012. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-24767-5_51.
Full textZhou, Xueya, Suying Bao, Binbin Wang, Xuegong Zhang, and You-Qiang Song. "Short Read Mapping for Exome Sequencing." In Methods in Molecular Biology. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-514-9_6.
Full textChiang, Theodore, Magalie Leduc, Mari Tokita, Teresa Santiago-Sim, and Yaping Yang. "Exome Sequencing in the Clinical Setting." In Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56418-0_14.
Full textEvans, Perry, Yong Kong, and Michael Krauthammer. "Computational Analysis in Cancer Exome Sequencing." In Methods in Molecular Biology. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0992-6_18.
Full textCollins, Andrew. "Analytical Approaches for Exome Sequence Data." In Applied Computational Genomics. Springer Netherlands, 2012. http://dx.doi.org/10.1007/978-94-007-5558-1_7.
Full textCollins, Andrew. "Analytical Approaches for Exome Sequence Data." In Applied Computational Genomics. Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-1071-3_9.
Full textConference papers on the topic "Exoma"
Murphy, Ken, and David Lowe. "Evaluation of a Novel Microwave Based NDT Inspection Method for Polyethylene Joints." In ASME 2011 Pressure Vessels and Piping Conference. ASMEDC, 2011. http://dx.doi.org/10.1115/pvp2011-58086.
Full textRamachandran, A., M. Micsinai, and I. Pe'er. "CONDEX: Copy number detection in exome sequences." In 2011 IEEE International Conference on Bioinformatics and Biomedicine Workshops (BIBMW). IEEE, 2011. http://dx.doi.org/10.1109/bibmw.2011.6112359.
Full textChoi, Yunyoung, Jaemoon Shin, Jinhwa Kong, Jeehee Yoon, and Keonbae Lee. "Exome_pipe: An automatic exome data analysis pipeline." In 2016 International Conference on High Performance Computing & Simulation (HPCS). IEEE, 2016. http://dx.doi.org/10.1109/hpcsim.2016.7568452.
Full textVinh, Le Sy, Nguyen Duc Canh, Bui Ngoc Thang, et al. "Genomedics: Whole exome analysis system for clinical studies." In 2017 9th International Conference on Knowledge and Systems Engineering (KSE). IEEE, 2017. http://dx.doi.org/10.1109/kse.2017.8119449.
Full textYoshida, Kenichi, Masashi Sanada, Yasunobu Nagata, et al. "Abstract 925: Whole exome analysis of myelodysplastic syndromes." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-925.
Full textJiang, Lei, and Farzaneh Zokaee. "EXMA: A Genomics Accelerator for Exact-Matching." In 2021 IEEE International Symposium on High-Performance Computer Architecture (HPCA). IEEE, 2021. http://dx.doi.org/10.1109/hpca51647.2021.00041.
Full textSanuki, Kaori, Kentaro Nakayama, Kohei Nakamura, et al. "Abstract 3383: Exome sequencing in dedifferentiated ovarian mucinous carcinoma." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-3383.
Full textSandgren, Johanna, Susan Pfeifer, Monica Nistér, and Teresita Diaz de Ståhl. "Abstract 3175: Discoveries from whole exome sequencing of medulloblastomas." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-3175.
Full textSasaki, Mark M., Andrew D. Skol, Trevor J. Pugh, Matthew Meyerson, and Kenan Onel. "Abstract 4018: Whole exome sequencing analysis of familial Medulloblastoma." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-4018.
Full textWilzen, Annica, Heidi Ottesen, Anna Larsson, et al. "Abstract A11: Exome sequencing of FFPE material: An evaluation." In Abstracts: AACR Special Conference: Pediatric Cancer at the Crossroads: Translating Discovery into Improved Outcomes; November 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.pedcan-a11.
Full textReports on the topic "Exoma"
Pericak-Vance, Margaret A. Whole Exome Analysis of Early Onset Alzheimer's Disease. Defense Technical Information Center, 2014. http://dx.doi.org/10.21236/ada603027.
Full textPericak-Vance, Margaret A. Whole Exome Analysis of Early Onset Alzheimer's Disease. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada602412.
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