Supplementary Methods: Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
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چکیده
1 Probabilistic model of de novo mutations and inherited variations in family data 2 2 The impact of mutation rates on the Multiplicity Test 3 3 Bayesian inference of risk genes 3 4 Estimation of the prior parameters by the Hierarchical Bayes method 5 5 TADA for multiple types of mutations 5 6 Method of moment estimation of the number of ASD genes and their relative risks 6 7 Comparison with an earlier estimate of the number of ASD genes 7 8 Parameterization in the analysis of ASD data 8 9 Controlling FDR in simulations 9 10 Genomic control for TADA 10 11 Variant Calling 10
منابع مشابه
Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de novo LoF mutations occurred at a twofold ...
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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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تاریخ انتشار 2013