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Article

Annotation of functional variation in personal genomes using RegulomeDB.

Genome research - 1 Sept 2012

Boyle Alan P, Hong Eurie L, Hariharan Manoj, Cheng Yong, Schaub Marc A, Kasowski Maya, Karczewski Konrad J, Park Julie, Hitz Benjamin C, Weng Shuai, Cherry J Michael, Snyder Michael

Abstract excerpt

As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible for normal and disease phenotypes. Current approaches focus on direct changes in protein coding genes, particularly nonsynonymous mutations t...

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Identifiers

PMID: 22955989
DOI: 10.1101/gr.137323.112
PMCID: PMC3431494

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22955989-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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