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Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Background The transition of whole-exome and whole-genome sequencing (WES/WGS) from the research setting to routine clinical practice remains challenging. Objectives With almost no previous research specifically assessing interface designs and functionalities of WES and WGS software tools, the autho...

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Détails bibliographiques
Publié dans:J Am Med Inform Assoc
Auteurs principaux: Shyr, Casper, Kushniruk, Andre, van Karnebeek, Clara D.M., Wasserman, Wyeth W.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4784553/
https://ncbi.nlm.nih.gov/pubmed/26117142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jamia/ocv053
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