DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human trait...

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Bibliographic Details
Main Authors: Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5524342?pdf=render

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http://europepmc.org/articles/PMC5524342?pdf=render

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