Partitioning of copy-number genotypes in pedigrees
نویسندگان
چکیده
منابع مشابه
Canvas SPW: calling de novo copy number variants in pedigrees
Motivation Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure. Results We have dev...
متن کاملApplication note Canvas SPW: calling de novo copy number variants in pedigrees
Motivation: Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure. Results: We have dev...
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Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
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Background: Based on the studies, variation in the mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes is associated with increased susceptibility to diseases including cancer. Opiate abusers are at high risk for diseases. In this study, we measured the mtDNA copy number in peripheral blood leukocytes in a group of opiate abusers compared with those in healthy individuals. Met...
متن کاملAn algorithm to sample unobservable genotypes in complex pedigrees
Probability functions such as likelihoods and genotype probabilities play an important role in the analysis of genetic data. When genotype data are incomplete Markov chain Monte Carlo (MCMC) methods, such as the Gibbs sampler, can be used to sample genotypes at the marker and trait loci. The Markov chain that corresponds to the scalar Gibbs sampler may not work due to slow mixing. Further, the ...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2010
ISSN: 1471-2105
DOI: 10.1186/1471-2105-11-226