Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women an...

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Détails bibliographiques
Publié dans:Am J Hum Genet
Auteurs principaux: Punj, Sumit, Akkari, Yassmine, Huang, Jennifer, Yang, Fei, Creason, Allison, Pak, Christine, Potter, Amiee, Dorschner, Michael O., Nickerson, Deborah A., Robertson, Peggy D., Jarvik, Gail P., Amendola, Laura M., Schleit, Jennifer, Simpson, Dana Kostiner, Rope, Alan F., Reiss, Jacob, Kauffman, Tia, Gilmore, Marian J., Himes, Patricia, Wilfond, Benjamin, Goddard, Katrina A.B., Richards, C. Sue
Format: Artigo
Langue:Inglês
Publié: Elsevier 2018
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992121/
https://ncbi.nlm.nih.gov/pubmed/29754767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.004
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