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Article

A method for scoring the cell type-specific impacts of noncoding variants in personal genomes.

Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 2020

Li Wenran, Duren Zhana, Jiang Rui, Wong Wing Hung

Abstract excerpt

A person's genome typically contains millions of variants which represent the differences between this personal genome and the reference human genome. The interpretation of these variants, i.e., the assessment of their potential impact on a person's phenotype, is currently of great interest in human genetics and medicine. We have developed a prioritization tool called OpenCausal which takes as inputs 1) a...

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PMID: 32817564
DOI: 10.1073/pnas.1922703117
PMCID: PMC7474608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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