Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes

Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). Here, we present individual-level data from a large PCS program in which exome sequencing was routinely performed on either gamet...

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Détails bibliographiques
Auteurs principaux: Antonio Capalbo, Roberto Alonso Valero, Jorge Jiménez, Pere Mir, Marco Fabiani, David Jiménez, Carlos Simón, Julio Martin Rodriguez
Format: Artigo
Langue:anglais
Publié: 2019
Accès en ligne:https://doi.org/10.1371/journal.pgen.1008409
https://storage.googleapis.com/plos-corpus-prod/10.1371/journal.pgen.1008409/2/pgen.1008409.pdf?X-Goog-Algorithm=GOOG4-RSA-SHA256&X-Goog-Credential=wombat-sa%40plos-prod.iam.gserviceaccount.com%2F20210223%2Fauto%2Fstorage%2Fgoog4_request&X-Goog-Date=20210223T141255Z&X-Goog-Expires=3600&X-Goog-SignedHeaders=host&X-Goog-Signature=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https://doi.org/10.1371/journal.pgen.1008409
https://storage.googleapis.com/plos-corpus-prod/10.1371/journal.pgen.1008409/2/pgen.1008409.pdf?X-Goog-Algorithm=GOOG4-RSA-SHA256&X-Goog-Credential=wombat-sa%40plos-prod.iam.gserviceaccount.com%2F20210223%2Fauto%2Fstorage%2Fgoog4_request&X-Goog-Date=20210223T141255Z&X-Goog-Expires=3600&X-Goog-SignedHeaders=host&X-Goog-Signature=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