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Article

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

American journal of human genetics - 2 Dec 2021

Fayer Shawn, Horton Carrie, Dines Jennifer N, Rubin Alan F, Richardson Marcy E, McGoldrick Kelly, Hernandez Felicia, Pesaran Tina, Karam Rachid, Shirts Brian H, Fowler Douglas M, Starita Lea M

Abstract excerpt

Clinical interpretation of missense variants is challenging because the majority identified by genetic testing are rare and their functional effects are unknown. Consequently, most variants are of uncertain significance and cannot be used for clinical diagnosis or management. Although not much can be done to ameliorate variant rarity, multiplexed assays of variant effect (MAVEs), where thousands of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34793697
DOI: 10.1016/j.ajhg.2021.11.001
PMCID: PMC8715144

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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