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Annotating DNA Variants Is the Next Major Goal for Human Genetics

Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic laboratories that previously tested for well-established disease-causing DNA variants in a handful of genes have evolved into sequencing factories identifying thousands of variants of known and unkno...

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Detalhes bibliográficos
Autor principal: Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882730/
https://ncbi.nlm.nih.gov/pubmed/24387988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.008
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