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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Bibliographic Details
Main Authors: Antonio Capalbo, Roberto Alonso Valero, Jorge Jimenez-Almazan, Pere Mir Pardo, Marco Fabiani, David Jiménez, Carlos Simon, Julio Martin Rodriguez
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-10-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008409