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FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data

29 Apr 2019

Abstract excerpt

Despite ongoing large-scale population-based whole-genome sequencing (WGS) projects such as the NIH NHLBI TOPMed program and the NHGRI Genome Sequencing Program, WGS-based association analysis of complex traits remains a tremendous challenge due to the large number of rare variants, many of which are non-trait-associated neutral variants.External biological knowledge, such as functional annotations based on the...

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PMID: 31034468
DOI: 10.1371/journal.pgen.1008081

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