Article

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

2018-03-20

Abstract excerpt

We previously demonstrated how sharing of rare variants (RVs) in distant affected relatives can be used to identify variants causing a complex and heterogeneous disease. This approach tested whether single RVs were shared by all sequenced affected family members. However, as with other study designs, joint analysis of several RVs (e.g. within genes) is sometimes required to obtain sufficient statistical power. Fur...

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Literature Corpus work: be49427b-c0a5-5ac8-b860-db4259f2597b
DOI: 10.1101/285874

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