Article
Gene-based segregation method for identifying rare variants in family-based sequencing studies.
Genetic epidemiology - 1 May 2017
Qiao Dandi, Lange Christoph, Laird Nan M, Won Sungho, Hersh Craig P, Morrow Jarrett, Hobbs Brian D, Lutz Sharon M, Ruczinski Ingo, Beaty Terri H, Silverman Edwin K, Cho Michael H
Abstract excerpt
Whole-exome sequencing using family data has identified rare coding variants in Mendelian diseases or complex diseases with Mendelian subtypes, using filters based on variant novelty, functionality, and segregation with the phenotype within families. However, formal statistical approaches are limited. We propose a gene-based segregation test (GESE) that quantifies the uncertainty of the filtering approach. It is...
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