Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

HIGHLIGHTS

  • who: Kelly M. Schiabor Barrett from the (UNIVERSITY) have published the Article: Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records, in the Journal: (JOURNAL)
  • what: The high PPVs seen with many associated rare variants are similar to relationships established for Genetics in Medicine 23:2300 - 2308 Additional genes associated with hereditary breast cancer not examined in the studies shown here include ATM, PALB2, CHEK2, TP53, PTEN, and CDH1.
  • how: For the phenotypes the authors used phecodes to reduce the phenotype complexity from >20000 . . .

     

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