Browsing Centre for Clinical Pharmacology by Subject "PanelApp"

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    • PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels 

      Martin, AR; Williams, E; Foulger, RE; Leigh, S; Daugherty, LC; Niblock, O; Leong, IUS; Smith, KR; Gerasimenko, O; Haraldsdottir, E (Nature Research (part of Springer Nature), 2019-11-01)
      I ndividual genomes contain millions of genetic variants. When considering which variants may be causative for a given rare genetic disease, applying filtering criteria (such as allele frequency, predicted variant ...