Article
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
American journal of human genetics - 6 Aug 2020
Easteal Simon, Arkell Ruth M, Balboa Renzo F, Bellingham Shayne A, Brown Alex D, Calma Tom, Cook Matthew C, Davis Megan, Dawkins Hugh J S, Dinger Marcel E, Dobbie Michael S, Farlow Ashley, Gwynne Kylie G, Hermes Azure, Hoy Wendy E, Jenkins Misty R, Jiang Simon H, Kaplan Warren, Leslie Stephen, Llamas Bastien, Mann Graham J, McMorran Brendan J, McWhirter Rebekah E, Meldrum Cliff J, Nagaraj Shivashankar H, Newman Saul J, Nunn Jack S, Ormond-Parker Lyndon, Orr Neil J, Paliwal Devashi, Patel Hardip R, Pearson Glenn, Pratt Greg R, Rambaldini Boe, Russell Lynette W, Savarirayan Ravi, Silcocks Matthew, Skinner John C, Souilmi Yassine, Vinuesa Carola G, Baynam Gareth
Abstract excerpt
Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from...
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