Blar i Department of Informatics på forfatter "Patton, Simon J."
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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants
Gutowska-Ding, Maria Weronika; Deans, Zandra C.; Roos, Christophe; Matilainen, Jukka; Khawaja, Farrah; Brügger, Kim; Ahn, Jo Wook; Boustred, Christopher; Patton, Simon J. (Journal article; Peer reviewed, 2020)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. ...