Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

doi:10.1002/mgg3.1836

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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular genetics & genomic medicine - 1 Dec 2021

Tran Mau-Them Frederic, Duffourd Yannis, Vitobello Antonio, Bruel Ange-Line, Denommé-Pichon Anne-Sophie, Nambot Sophie, Delanne Julian, Moutton Sebastien, Sorlin Arthur, Couturier Victor, Bourgeois Valentin, Chevarin Martin, Poe Charlotte, Mosca-Boidron Anne-Laure, Callier Patrick, Safraou Hana, Faivre Laurence, Philippe Christophe, Thauvin-Robinet Christel

Abstract excerpt

BACKGROUND: Exome sequencing (ES) has become the most powerful and cost-effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%-40% in solo-ES and 50% in trio-ES. We applied an innovative parental DNA pooling method to reduce the parental sequencing cost while maintaining the diagnostic yield of trio-ES. METHODS: We pooled six (Agilent-CRE-v2-100X) or five parental DNA...

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PMID: 34716697
DOI: 10.1002/mgg3.1836
PMCID: PMC8683640

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