Assessing association between protein truncating variants and quantitative traits.

Article English OPEN
Rivas, MA ; Pirinen, M ; Neville, MJ ; Gaulton, KJ ; Moutsianas, L ; Lindgren, CM ; Karpe, F ; McCarthy, MI ; Donnelly, P (2013)
  • Publisher: Oxford University Press
  • Journal: Bioinformatics (Oxford, England), volume 29, issue 19, pages 2,419-2,426 (issn: 1367-4803, eissn: 1367-4811)
  • Related identifiers: pmc: PMC3777107, doi: 10.1093/bioinformatics/btt409
  • Subject: Genetics and Population Analysis | Original Papers

Motivation: In sequencing studies of common diseases and quantitative traits, power to test rare and low frequency variants individually is weak. To improve power, a common approach is to combine statistical evidence from several genetic variants in a region. Major chal... View more