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Article

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Human mutation - 1 Jan 2012

Jiang Qian, Turner Tychele, Sosa Maria X, Rakha Ankit, Arnold Stacey, Chakravarti Aravinda

Abstract excerpt

Next-generation sequencing (NGS) technologies can be a boon to human mutation detection given their high throughput: consequently, many genes and samples may be simultaneously studied with high coverage for accurate detection of heterozygotes. In circumstances requiring the intensive study of a few genes, particularly in clinical applications, a rapid turn around is another desirable goal. To this end, we...

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Identifiers

PMID: 21898659
DOI: 10.1002/humu.21602
PMCID: PMC3240684

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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