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

Date publication

octobre 2021

Journal

Molecular genetics & genomic medicine

Auteurs

Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick , Pr FAIVRE Laurence , Pr PHILIPPE Christophe , Dr NAMBOT Sophie , Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A, ,Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/34716697

Résumé

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.

Mots clés

cost effectiveness, exome sequencing, rare diseases, trio-like strategy; parental-pool strategy

Référence

Mol Genet Genomic Med. 2021 Oct 30;:e1836