Article
A Protein Domain and Family Based Approach to Rare Variant Association Analysis.
PloS one - 1 Jan 2016
Richardson Tom G, Shihab Hashem A, Rivas Manuel A, McCarthy Mark I, Campbell Colin, Timpson Nicholas J, Gaunt Tom R
Abstract excerpt
BACKGROUND: It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit. METHODS: Using Pfam definitions,...
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