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Article

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

PloS one - 1 Jan 2017

Persyn Elodie, Karakachoff Matilde, Le Scouarnec Solena, Le Clézio Camille, Campion Dominique, Consortium French Exome, Schott Jean-Jacques, Redon Richard, Bellanger Lise, Dina Christian

Abstract excerpt

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. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low...

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PMID: 28742119
DOI: 10.1371/journal.pone.0179364
PMCID: PMC5524342

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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