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Article

Analysis of DNA sequence variants detected by high-throughput sequencing.

Human mutation - 1 Apr 2012

Adams David R, Sincan Murat, Fuentes Fajardo Karin, Mullikin James C, Pierson Tyler M, Toro Camilo, Boerkoel Cornelius F, Tifft Cynthia J, Gahl William A, Markello Tom C

Abstract excerpt

The Undiagnosed Diseases Program at the National Institutes of Health uses high-throughput sequencing (HTS) to diagnose rare and novel diseases. HTS techniques generate large numbers of DNA sequence variants, which must be analyzed and filtered to find candidates for disease causation. Despite th...

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PMID: 22290882
DOI: 10.1002/humu.22035
PMCID: PMC3959770

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22290882-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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