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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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Detalles Bibliográficos
Publicado en:Annu Rev Genomics Hum Genet
Autores principales: Strande, Natasha T., Berg, Jonathan S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
Materias:
Acceso en línea: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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