Exomes of 85 European individuals (CEU) as well as 88 African individuals (YRI) were filtered for rare compound heterozygous candidate variants.

Abstract

<p>A) In average around 230 variants pass the filter in CEU exomes and 309 in YRI exomes. B) The potential compound heterozygotes are distributed over 31 genes in CEU individuals and 67 genes in YRI individuals. C) Altogether 1998 genes harbored potential compound heterozygous variants in the tested individuals and compound heterozygotes in 1066 genes occurred only in singular cases.</p

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