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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 traits. Associa...

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Detalles Bibliográficos
Autores principales: Persyn, Elodie, Karakachoff, Matilde, Le Scouarnec, Solena, Le Clézio, Camille, Campion, Dominique, Consortium, French Exome, Schott, Jean-Jacques, Redon, Richard, Bellanger, Lise, Dina, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524342/
https://www.ncbi.nlm.nih.gov/pubmed/28742119
http://dx.doi.org/10.1371/journal.pone.0179364