Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing
نویسندگان
چکیده
منابع مشابه
Exome arrays capture polygenic rare variant contributions to schizophrenia.
Schizophrenia is a highly heritable disorder. Genome-wide association studies based largely on common alleles have identified over 100 schizophrenia risk loci, but it is also evident from studies of copy number variants (CNVs) and from exome-sequencing studies that rare alleles are also involved. Full characterization of the contribution of rare alleles to the disorder awaits the deployment of ...
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Rare causal variants are believed to significantly contribute to the genetic basis of common diseases or quantitative traits. Appropriate statistical methods are required to discover the highest possible number of disease-relevant variants in a genome-wide screening study. The publicly available Genetic Analysis Workshop 17 data set consists of 697 individuals and 24,487 genetic variants. It in...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2012
ISSN: 1471-2164
DOI: 10.1186/1471-2164-13-683