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Article

Accurately annotate compound effects of genetic variants using a context-sensitive framework.

Nucleic acids research - 2 Jun 2017

Cheng Si-Jin, Shi Fang-Yuan, Liu Huan, Ding Yang, Jiang Shuai, Liang Nan, Gao Ge

Abstract excerpt

In genomics, effectively identifying the biological effects of genetic variants is crucial. Current methods handle each variant independently, assuming that each variant acts in a context-free manner. However, variants within the same gene may interfere with each other, producing combinational (compound) rather than individual effects. In this work, we introduce COPE, a gene-centric variant annotation tool that...

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Identifiers

PMID: 28158838
DOI: 10.1093/nar/gkx041
PMCID: PMC5449550

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COPE

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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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