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Article

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

PLoS computational biology - 1 Feb 2021

Susak Hana, Serra-Saurina Laura, Demidov German, Rabionet Raquel, Domènech Laura, Bosio Mattia, Muyas Francesc, Estivill Xavier, Escaramís Geòrgia, Ossowski Stephan

Abstract excerpt

Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates the association of rare variants in coding or regulatory regions with complex diseases in large cohorts at genome-wide scale. However, rare variant association studies (RVAS) still lack power...

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PMID: 33606672
DOI: 10.1371/journal.pcbi.1007784
PMCID: PMC7928502

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