Rare variant association studies: considerations, challenges and opportunities

作者： Paul L Auer , Guillaume Lettre

DOI: 10.1186/S13073-015-0138-2

关键词: Trait 、 Computational biology 、 Genetics 、 Exome 、 Genotyping 、 Genetic architecture 、 Heritability 、 Biology 、 Human genetics 、 Genetic association 、 Context (language use)

摘要: … for variants. Finally, we describe recent rare variant association findings, highlighting the unexpected conclusion that most rare variants have modest-to-small effect sizes on phenotypic …

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