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Article

Unique signatures of highly constrained genes across publicly available genomic databases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025

Schmitz-Abe Klaus, Li Qifei, Greene Sunny, Borrelli Michela, Luo Shiyu, Ramesh Madesh C, Agrawal Pankaj B

Abstract excerpt

PURPOSE: Publicly available genomic databases are critical in understanding human genetic variation. They also provide unique insights into patterns of genetic constraints and their relationship with human disease. METHODS: We utilized one of the largest publicly available databases, Genome Aggregate Database, to determine genes that are highly constrained for only loss-of-function, only missense, and both...

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Share to Databases, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Source

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Identifiers

PMID: 40121539
DOI: 10.1016/j.gim.2025.101413
PMCID: PMC12753103

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