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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants

Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredited laboratories as well as those seeking accredita...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Gutowska-Ding, Maria Weronika, Deans, Zandra C., Roos, Christophe, Matilainen, Jukka, Khawaja, Farrah, Brügger, Kim, Ahn, Jo Wook, Boustred, Christopher, Patton, Simon J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6974611/
https://ncbi.nlm.nih.gov/pubmed/31570784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0515-1
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