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Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar

Harrison, SM; Rehm, HL

Harrison, SM (reprint author), Broad Inst MIT & Harvard, Med & Populat Genet Program & Genom Platform, Main St, Cambridge, MA 02142 USA.; Harrison, SM (reprint author), Harvard Med Sch, Dept Pathol, Shattuck St, Boston, MA 02115 USA.

GENOME MEDICINE, 2019; 11 (1):

Abstract

In 2015, professional guidelines defined the term 'likely pathogenic' to mean with a 90% chance of pathogenicity. To determine whether current practic......

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