Relevant bibliographies by topics / Rare variation

Contents

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

Academic literature on the topic 'Rare variation'

Author: Grafiati
Published: 4 June 2021
Last updated: 10 February 2022

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Journal articles on the topic "Rare variation"

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Joseph Lufukuja, George. "ACCESSORY LEFT TESTICULAR VEIN: A RARE VARIATION." International Journal of Anatomy and Research 4, no. 4.2 (2016): 3079–81. http://dx.doi.org/10.16965/ijar.2016.407.

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Kuvat, Samet Vasfi, Mehmet Bozkurt, Caferi Tayyar Selçuk, and Emin Kapi. "A Rare Nerve Variation." Journal of Craniofacial Surgery 24, no. 2 (2013): 694–95. http://dx.doi.org/10.1097/scs.0b013e3182802399.

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Yucel, Serap, Hediye Pinar Gunbey, Emre Gunbey, Asli Tanrivermis Sayit, and Kerim Aslan. "A Rare Concha Variation." Journal of Craniofacial Surgery 28, no. 3 (2017): e242-e244. http://dx.doi.org/10.1097/scs.0000000000003451.

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Sridhar Varma, K., Narendra Pamidi, and Venkata R. Vollala. "Common celiacomesenteric trunk: a rare anatomic variation." Jornal Vascular Brasileiro 8, no. 3 (2009): 271–73. http://dx.doi.org/10.1590/s1677-54492009000300015.

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Common celiacomesenteric trunk, with the celiac and superior mesenteric arteries having a common origin from the aorta, is the least frequently reported anatomic variation of all abdominal vascular anomalies. Knowledge of variations concerning the celiac trunk and superior mesenteric artery are of great importance for both surgical approaches and angiographic examinations. Clinicians should keep in mind these variations to avoid complications.
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Zahn, Laura M. "Functional rare variation in transcriptomes." Science 369, no. 6509 (2020): 1335.13–1337. http://dx.doi.org/10.1126/science.369.6509.1335-m.

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Joshi, R. V., S. D. Gupta, and Kshema Nair. "Ulnar artery – A rare variation." Journal of the Anatomical Society of India 65 (September 2016): S108. http://dx.doi.org/10.1016/j.jasi.2016.08.345.

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Bahcall, Orli. "Rare variation in human populations." Nature Genetics 44, no. 7 (2012): 739. http://dx.doi.org/10.1038/ng.2342.

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Panwar, Rajeev, Dharmaraj W. Tamgire, Yogesh A. Sontakke, and Rajasekhar SSSN. "A RARE VARIATION OF GREAT SAPHENOUS VEIN: A CASE REPORT." International Journal of Anatomy and Research 6, no. 2.2 (2018): 5246–49. http://dx.doi.org/10.16965/ijar.2018.169.

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Lufukuja, George Joseph. "SUPERFICIAL ULNAR ARTERY: A RARE VARIATION IN A TANZANIAN MALE CADAVER." International Journal of Anatomy and Research 4, no. 2 (2016): 2409–11. http://dx.doi.org/10.16965/ijar.2016.217.

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Paval, J., and J. G. Mathew. "A rare variation of the biceps brachi muscle." Indian Journal of Plastic Surgery 39, no. 01 (2006): 65–67. http://dx.doi.org/10.1055/s-0039-1700464.

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AbstractBiceps brachii muscle is very variable. Biceps may be composed of one to five heads. Although the variations in the origin are plenty, there are a very few cases reported on the variations in the insertion of the biceps brachii muscle. In this report we present a variant biceps brachii muscle which gives an abnormal muscle fasciculus from its medial side which continues as a narrow tendinous slip and is inserted in to the medial supracondylar ridge of humerus. We discuss in this report, the possible median nerve entrapment due to the presence of such a variation.
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Dissertations / Theses on the topic "Rare variation"

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Al, Eissa Mariam. "Analysis of rare genetic variation in psychotic disorders with complex aetiology." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10058105/.

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Schizophrenia (SCZ) and bipolar disorder (BPD) are both severe psychiatric diseases which can give rise to debilitating symptoms. To understand the nature of molecular pathologies, it is important to look into the genetics underlying the phenotype to understand its role in disease formation. Using recent exome sequence data sets such as those from the UK10K project and SCZ-Swedish exome data facilitated the identification of rare variants which contribute to the risk of developing those illnesses. To identify rare variants with potential susceptibility and strong effects, UCL SCZ families with
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Monson, Eric Thayne. "Interrogation of rare functional variation within bipolar disorder and suicidal behavior cohorts." Diss., University of Iowa, 2018. https://ir.uiowa.edu/etd/6219.

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Suicidal behavior represents the most severe, yet inherently preventable, outcome of psychiatric disease. Despite tremendous efforts to improve the awareness and treatment of psychiatric illness, suicidal behavior rates have been on the rise. The greatest challenge to confronting this crisis is the effective identification and treatment of those at risk for suicide. This challenge has been difficult to address due, in part, to the lack of a clear biological basis for suicidal behavior. Toward addressing this knowledge gap, evidence has been identified of a significant heritable component to su
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Bick, Alexander George. "At the Heart of the Genome: Rare Genetic Variation, Cardiovascular Disease, and Therapy." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11399.

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Studies of large families with inherited single gene disorders identified a role of rare genetic variation as a cause of disease and enabled gene-based diagnosis. The increasing availability of population-scale genomic sequencing implies the potential to extend gene-based diagnosis from individuals with monogenic disease to the prediction of disease risk in the general population. Cardiovascular disease (CVD), as a highly heritable condition with significant public health burden, represents an excellent place to consider the promise and limitations of extending our understanding of rare variat
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Samocha, Kaitlin E. "Modeling Rare Protein-Coding Variation to Identify Mutation-Intolerant Genes With Application to Disease." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:33493508.

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Sequencing exomes—the 1% of the genome that codes for proteins—has increased the rate at which the genetic basis of a patient’s disease is determined. Unfortunately, when a patient does not carry a well-established pathogenic variant, it is extremely challenging to establish which of the tens of thousands of variants identified in that individual is contributing to their disease. In these situations, variants must be prioritized to make further investigation more manageable. In this thesis, we have focused on creating statistical frameworks and models to aid in the interpretation of rare varia
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Brzyski, Jessica R. "Population genetics and breeding ecology of the rare clonal shrub, Spiraea virginiana (Rosaceae)." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1306497965.

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Jackson, Victoria Emily. "Investigation into the role of rare genetic variation in lung function and chronic obstructive pulmonary disease." Thesis, University of Leicester, 2016. http://hdl.handle.net/2381/38645.

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Lung Function is a physiological measurement used for monitoring respiratory health and in the diagnosis of chronic obstructive pulmonary disease (COPD), a leading cause of morbidity and mortality worldwide. Lung function and COPD are influenced by a combination of environmental and genetic factors. This thesis aims to investigate the genetic basis of these traits, with a particular focus on the effect of low frequency and rare genetic variants, so far largely overlooked in genome-wide association studies (GWAS). An analysis of exome array data and COPD identifies novel associations between CO
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Loken, Erik. "Identifying functional variation in schizophrenia GWAS loci by pooled sequencing." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/3515.

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Schizophrenia demonstrates high heritability in part accounted for by common simple nucleotide variants (SNV), rare copy number variants (CNV) and, most recently, rare SNVs Although heritability explained by rare SNVs and CNVs is small compared to that explained by common SNVs, rare SNVs in functional sequences may identify specific disease mechanisms. However, current exome methods do not capture a large proportion of potentially functional bases where rare variation may impact disease risk: as much as two-thirds of conserved sequences lie outside the exome in non-coding regions of cross-spec
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Haimel, Matthias. "Development of computational approaches for whole-genome sequence variation and deep phenotyping." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/283563.

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The rare disease pulmonary arterial hypertension (PAH) results in high blood pressure in the lung caused by narrowing of lung arteries. Genes causative in PAH were discovered through family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic (79%) PAH cases is not yet known but are speculated to be caused by rare variants. Advances in high-throughput sequencing (HTS) technologies made it possible to detect variants in 98% of the human genome. A drop in sequencing costs made it feasible to sequence 10,000 individuals including 1,250 subject
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Brown, Susan Ann. "Genetic variation within and between some rare and common taxa of Cape Proteaceae and the implications for their conservation." Thesis, Rhodes University, 2000. http://hdl.handle.net/10962/d1003964.

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Fearon, Janine Lee. "The genetic diversity and conservation biology of the rare terrestrial snail genus Prestonella." Thesis, Rhodes University, 2011. http://hdl.handle.net/10962/d1003760.

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Prestonella bowkeri and Prestonella nuptialis are montane specialists endemic to the southern Great Escarpment of South Africa. Phylogeographic analyses of these species based on mitochondrial markers CO1 and 16S reveal extremely high levels of divergence between populations indicating a lack of gene flow between populations. This is not surprising, because P. nuptialis and P. bowkeri have limited dispersal capacity, low vagility, a highly fragmented distribution and are habitat specialists that are restricted to isolated mesic refugia associated with waterfalls and montane seepages. A relaxed
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Books on the topic "Rare variation"

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Zeggini, Eleftheria, and Andrew Morris, eds. Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8.

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Mitchell-Olds, Thomas. Electrophoretic variation in Arabis fecunda, a rare endemic of Western Montana. Montana Natural Heritage Program, 1991.

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Jamieson, Ian G. Loss of genetic diversity and inbreeding in New Zealand's threatened bird species. Pub. Team, Dept. of Conservation, 2009.

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Jamieson, Ian G. Loss of genetic diversity and inbreeding in New Zealand's threatened bird species. Pub. Team, Dept. of Conservation, 2009.

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The red colobus monkeys: Variation in demography, behavior, and ecology of endangered species. Oxford University Press, 2010.

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U.S. Fish and Wildlife Service, ed. Longitudinal variation in the trophic structure of the upper Colorado River: Final report. Ecosystems Research Institute, Inc., 1999.

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Lamarra, Vincent A. Longitudinal variation in the trophic structure of the upper Colorado River: Final report. Ecosystems Research Institute, Inc., 1999.

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Lamarra, Vincent A. Longitudinal variation in the trophic structure of the upper Colorado River: Final report. Ecosystems Research Institute, Inc., 1999.

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A, Hachmeister Heiner, and Hachmeister Galerie Münster (Germany), eds. Pablo Picasso: Paraphrasen und Variationen : seltene Graphik = paraphrases and variations : rare prints. Hachmeister, 2004.

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Eppinger, R. G. Trace element and rare earth element variation in fluorites collected from skarn and epithermal mineral deposits in the Sierra Cuchillo area, south-central New Mexico. U.S. Dept. of the Interior, Geological Survey, 1988.

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Book chapters on the topic "Rare variation"

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

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Mahajan, Anubha, and Neil Robertson. "Rare Variant Quality Control." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_3.

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Tachmazidou, Ioanna, and Eleftheria Zeggini. "Meta-Analysis of Rare Variants." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_15.

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Génin, Emmanuelle, Sébastien Letort, and Marie-Claude Babron. "Population Stratification of Rare Variants." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_16.

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Xue, Yali, and Chris Tyler-Smith. "Natural Selection at Rare Variants." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_9.

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Kuchenbaecker, Karoline, and Emil Vincent Rosenbaum Appel. "Assessing Rare Variation in Complex Traits." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7868-7_5.

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Goldstein, Jacqueline I., and Benjamin M. Neale. "Calling Rare Variants from Genotype Data." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_1.

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Greenwood, Celia M. T., ChangJiang Xu, and Antonio Ciampi. "Significance Thresholds for Rare Variant Signals." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_12.

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Rivas, Manuel A., and Loukas Moutsianas. "Power of Rare Variant Aggregate Tests." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_13.

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Ritchie, Graham R. S., and Paul Flicek. "Functional Annotation of Rare Genetic Variants." In Assessing Rare Variation in Complex Traits. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2824-8_5.

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Conference papers on the topic "Rare variation"

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Nikolic, A. "Genetic variation in a patient with a rare syndrome of severe insulin resistance." In Diabetes Kongress 2021 – 55. Jahrestagung der DDG. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1727543.

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Ma, Liangbang, Qianglu Chen, Jie Wang, and Zhenheng Yang. "Variation of Geochemical Occurrences of Rare Earth Elements in Shale during Simulated Hydrocarbon Generation." In Goldschmidt2020. Geochemical Society, 2020. http://dx.doi.org/10.46427/gold2020.1680.

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Sun, Shupeng, and Xin Li. "Fast statistical analysis of rare failure events for memory circuits in high-dimensional variation space." In 2015 20th Asia and South Pacific Design Automation Conference (ASP-DAC). IEEE, 2015. http://dx.doi.org/10.1109/aspdac.2015.7059022.

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Sun, Shupeng, and Xin Li. "Fast statistical analysis of rare circuit failure events via subset simulation in high-dimensional variation space." In 2014 IEEE/ACM International Conference on Computer-Aided Design (ICCAD). IEEE, 2014. http://dx.doi.org/10.1109/iccad.2014.7001370.

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Sun, Shupeng, Xin Li, Hongzhou Liu, Kangsheng Luo, and Ben Gu. "Fast statistical analysis of rare circuit failure events via scaled-sigma sampling for high-dimensional variation space." In 2013 IEEE/ACM International Conference on Computer-Aided Design (ICCAD). IEEE, 2013. http://dx.doi.org/10.1109/iccad.2013.6691160.

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Sun, Shupeng, and Xin Li. "Fast statistical analysis of rare circuit failure events via Bayesian scaled-sigma sampling for high-dimensional variation space." In 2015 IEEE Custom Integrated Circuits Conference - CICC 2015. IEEE, 2015. http://dx.doi.org/10.1109/cicc.2015.7338409.

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Pirie, Ailith, Jean Abraham, Kyriaki Michailidou, et al. "Abstract 5545: Rare genetic variation association with neurotoxicity and infection in breast cancer patients enrolled in PG-SNPS." 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.am2014-5545.

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Kapoor, S., S. Kumar, N. Hussain, and S. Ganesan. "G316(P) Copy number variation (cnv) in a patient with epilepsy and hypothyroidism: a rare association with rbfox1 microdeletion." In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 13–15 March 2018, SEC, Glasgow, Children First – Ethics, Morality and Advocacy in Childhood, The Journal of the Royal College of Paediatrics and Child Health. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2018. http://dx.doi.org/10.1136/archdischild-2018-rcpch.307.

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Montomoli, F., D. Amirante, N. Hills, S. Shahpar, and M. Massini. "Uncertainty Quantification, Rare Events and Mission Optimization: Stochastic Variations of Metal Temperature During a Transient." In ASME Turbo Expo 2014: Turbine Technical Conference and Exposition. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/gt2014-25398.

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Gas turbines are designed to follow specific missions and the metal temperature is usually predicted with deterministic methods. However, in real life the mission is subjected to strong variations which can affect the thermal response of the components. This paper presents a stochastic analysis of the metal temperature variations during a gas turbine transient. A Monte Carlo Method (MCM) with Meta Model is used to evaluate the probability distribution of the stator disk temperature. The MCM is applied to a series of CFD simulations of a stator well, whose geometry is modified according to the
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Park, Taehyun, Timothy Jensen, Daniel Park, et al. "Capture of Very Rare Circulating Tumor Cells for Human Breast Cancer Diagnosis." In ASME 2007 International Mechanical Engineering Congress and Exposition. ASMEDC, 2007. http://dx.doi.org/10.1115/imece2007-42425.

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A method of collecting and delivering single or precise numbers of cells to assess the feasibility of capturing very rare circulating tumor cells for human breast cancer diagnosis and monitoring was developed. A PMMA device was assembled with minimal assembly variation using passive alignment. Thermoplastic fusion bonding was optimized to yield minimal deformation of the microfluidic channel. UV modification and an anti-epithelial cell adhesion molecule (anti-EpCAM) functionalization process were used to generate capture surfaces and maximized by control experiment. Single or precise numbers o
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Reports on the topic "Rare variation"

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Hemez, Paul. Divorce Rate in the U.S.: Geographic Variation, 2016. National Center for Family & Marriage Research, 2017. http://dx.doi.org/10.25035/ncfmr/fp-17-24.

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Hemez, Paul. Marriage Rate in the U.S.: Geographic Variation, 2016. National Center for Family & Marriage Research, 2017. http://dx.doi.org/10.25035/ncfmr/fp-17-25.

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Schweizer, Valerie. Marriage Rate in the U.S.: Geographic Variation, 2017. National Center for Family and Marriage Research, 2018. http://dx.doi.org/10.25035/ncfmr/fp-18-20.

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Schweizer, Valerie. Divorce Rate in the U.S.: Geographic Variation, 2017. National Center for Family and Marriage Research, 2018. http://dx.doi.org/10.25035/ncfmr/fp-18-21.

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Allred, Colette. Marriage Rate in the U.S.: Geographic Variation, 2018. National Center for Family and Marriage Research, 2019. http://dx.doi.org/10.25035/ncfmr/fp-19-22.

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Allred, Colette. Divorce Rate in the U.S.: Geographic Variation, 2018. National Center for Family and Marriage Research, 2019. http://dx.doi.org/10.25035/ncfmr/fp-19-23.

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Reynolds, Leslie. Marriage Rate in the U.S.: Geographic Variation, 2019. National Center for Family and Marriage Research, 2020. http://dx.doi.org/10.25035/ncfmr/fp-20-24.

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Reynolds, Leslie. Divorce Rate in the U.S.: Geographic Variation, 2019. National Center for Family and Marriage Research, 2020. http://dx.doi.org/10.25035/ncfmr/fp-20-25.

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Reynolds, Leslie. Remarriage Rate in the U.S.: Geographic Variation, 2019. National Center for Family and Marriage Research, 2021. http://dx.doi.org/10.25035/ncfmr/fp-21-18.

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Wu, Huijing. Age Variation in the Divorce Rate, 1990 & 2015. National Center for Family & Marriage Research, 2017. http://dx.doi.org/10.25035/ncfmr/fp-17-20.

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