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Article

A groupwise association test for rare mutations using a weighted sum statistic.

PLoS genetics - 1 Feb 2009

Madsen Bo Eskerod, Browning Sharon R

Abstract excerpt

Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common...

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Identifiers

PMID: 19214210
DOI: 10.1371/journal.pgen.1000384
PMCID: PMC2633048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19214210-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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