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Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

As with all fields of medicine, the first step toward medical management of genetic disorders is obtaining an accurate diagnosis, which often requires testing at the molecular level. Unfortunately, given the large number of genetic conditions without a specific intervention, only rarely does a genet...

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Detalhes bibliográficos
Publicado no:Annu Rev Genomics Hum Genet
Main Authors: Strande, Natasha T., Berg, Jonathan S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7251520/
https://ncbi.nlm.nih.gov/pubmed/27362341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1146/annurev-genom-083115-022348
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