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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Detalles Bibliográficos
Autores principales: Capalbo, Antonio, Valero, Roberto Alonso, Jimenez-Almazan, Jorge, Pardo, Pere Mir, Fabiani, Marco, Jiménez, David, Simon, Carlos, Rodriguez, Julio Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797235/
https://www.ncbi.nlm.nih.gov/pubmed/31589614
http://dx.doi.org/10.1371/journal.pgen.1008409

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