Genome-wide significance testing of variation from single case exomes.
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ABSTRACT:
SUBMITTER: Wilfert AB
PROVIDER: S-EPMC5127779 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Publications
Genome-wide significance testing of variation from single case exomes.
Wilfert Amy B AB Chao Katherine R KR Kaushal Madhurima M Jain Sanjay S Zöllner Sebastian S Adams David R DR Conrad Donald F DF
Nature genetics 20161024 12
Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single exome or genome, what we refer to as the 'n-of-one' problem. Using this approach we assessed our ability to identify the causal genotypes in over 5 million simulated cases of Mendelian disease, identifying 39% of disease genotypes as the most damaging un ...[more]
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