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Article

Genomewide SNP assay reveals mutations underlying Parkinson disease.

Human mutation - 1 Feb 2008

Simon-Sanchez Javier, Scholz Sonja, Matarin Maria del Mar, Fung Hon-Chung, Hernandez Dena, Gibbs J Raphael, Britton Angela, Hardy John, Singleton Andrew

Abstract excerpt

Technologies that allow genotyping of more than 100,000 polymorphisms in a single assay enable the execution of genomewide SNP (GWSNP) association studies to identify common genetic variants underlying traits. Less appreciated is the ability of GWSNP assays to map and directly identify rare mutat...

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PMID: 17994548
DOI: 10.1002/humu.20626

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17994548-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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