Article

Ultra-rare variants drive substantial <i>cis</i> -heritability of human gene expression

2017-11-14

Abstract excerpt

<h4>ABSTRACT</h4> The vast majority of human mutations have minor allele frequencies (MAF) under 1%, with the plurality observed only once (i.e., “singletons”). While Mendelian diseases are predominantly caused by rare alleles, their cumulative contribution to complex phenotypes remains largely unknown. We develop and rigorously validate an approach to jointly estimate the contribution of all alleles, including s...

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Literature Corpus work: 2e1a0bb4-f423-529f-918f-1bb3470b5a75
DOI: 10.1101/219238

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