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Article

Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.

Journal of human genetics - 1 Jul 2010

Mitsui Jun, Fukuda Yoko, Azuma Kyo, Tozaki Hirokazu, Ishiura Hiroyuki, Takahashi Yuji, Goto Jun, Tsuji Shoji

Abstract excerpt

We have recently found that multiple rare variants of the glucocerebrosidase gene (GBA) confer a robust risk for Parkinson disease, supporting the 'common disease-multiple rare variants' hypothesis. To develop an efficient method of identifying rare variants in a large number of samples, we appli...

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PMID: 20485446
DOI: 10.1038/jhg.2010.46

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20485446-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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