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...

Full description

Saved in:
Bibliographic Details
Main Authors: Antonio Capalbo, Roberto Alonso Valero, Jorge Jiménez, Pere Mir, Marco Fabiani, David Jiménez, Carlos Simón, Julio Martin Rodriguez
Format: Artigo
Language:English
Published: 2019
Online Access: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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
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

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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

Similar Items