Patients’ Ratings of Genetic Conditions Validate a Taxonomy to Simplify Decisions about Preconception Carrier Screening via Genome Sequencing

Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical metho...

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Publicado en:Am J Med Genet A
Main Authors: Leo, Michael C., McMullen, Carmit, Wilfond, Benjamin S., Lynch, Frances, Reiss, Jacob A., Gilmore, Marian J., Himes, Patricia, Kauffman, Tia L., Davis, James V., Jarvik, Gail P., Berg, Jonathan, Harding, Cary, Kennedy, Kathleen, Kostiner-Simpson, Dana, Quigley, Denise, Richards, C. Sue, Rope, Alan F., Goddard, Katrina A.B.
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4824299/
https://ncbi.nlm.nih.gov/pubmed/26792268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37477
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