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Article

Prioritization of oligogenic variant combinations in whole exomes.

Bioinformatics (Oxford, England) - 29 Mar 2024

Gravel Barbara, Renaux Alexandre, Papadimitriou Sofia, Smits Guillaume, Nowé Ann, Lenaerts Tom

Abstract excerpt

MOTIVATION: Whole exome sequencing (WES) has emerged as a powerful tool for genetic research, enabling the collection of a tremendous amount of data about human genetic variation. However, properly identifying which variants are causative of a genetic disease remains an important challenge, often due to the number of variants that need to be screened. Expanding the screening to combinations of variants in two or...

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PMID: 38603604
DOI: 10.1093/bioinformatics/btae184
PMCID: PMC11037482

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