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Article

GEMINI: integrative exploration of genetic variation and genome annotations.

PLoS computational biology - 1 Jan 2013

Paila Umadevi, Chapman Brad A, Kirchner Rory, Quinlan Aaron R

Abstract excerpt

Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical genetics. We have developed GEMINI (GEnome MINIng), a fle...

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PMID: 23874191
DOI: 10.1371/journal.pcbi.1003153
PMCID: PMC3715403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23874191-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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