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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Hlavní autoři: Antonio Capalbo, Roberto Alonso Valero, Jorge Jiménez, Pere Mir, Marco Fabiani, David Jiménez, Carlos Simón, Julio Martin Rodriguez
Médium: Artigo
Jazyk:angličtina
Vydáno: 2019
On-line přístup: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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