Generating a Taxonomy for Genetic Conditions Relevant to Reproductive Planning

As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate...

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Библиографические подробности
Опубликовано в: :Am J Med Genet A
Главные авторы: Korngiebel, Diane M, McMullen, Carmit, Amendola, Laura, Berg, Jonathan S, Davis, James V, Gilmore, Marian J, Harding, Cary, Himes, Patricia, Jarvik, Gail P, Kauffman, Tia L, Kennedy, Kathleen, Simpson, Dana Kostiner, Leo, Michael C, Lynch, Frances, Quigley, Denise, Reiss, Jacob A, Richards, C. Sue, Rope, Alan, Schneider, Jennifer L, Goddard, Katrina AB, Wilfond, Benjamin S
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4860293/
https://ncbi.nlm.nih.gov/pubmed/26889673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37513
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