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Article

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.

American journal of human genetics - 2 Apr 2020

Xu Danqing, Wang Chen, Kiryluk Krzysztof, Buxbaum Joseph D, Ionita-Laza Iuliana

Abstract excerpt

The identification of functional regions in the noncoding human genome is difficult but critical in order to gain understanding of the role noncoding variation plays in gene regulation in human health and disease. We describe here a co-localization approach that aims to identify constrained sequences that co-localize with tissue- or cell-type-specific regulatory regions, and we show that the resulting score is...

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Source

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Identifiers

PMID: 32243819
DOI: 10.1016/j.ajhg.2020.03.003
PMCID: PMC7118583

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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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