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Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening.

Tianyuan LuSirui ZhouHaoyu WuVincenzo ForgettaCelia M T GreenwoodJohn Brent Richards
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Rare pathogenic variants were more prevalent among affected patients with a low PRS. Therefore, prioritizing individuals for sequencing who have disease but low PRS may increase the yield of sequencing studies to identify rare variant heterozygotes.
Keyphrases
  • single cell
  • copy number
  • dna methylation