Browsing Bergen Open Research Archive by Author "Gutowska-Ding, Maria Weronika"

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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. ...