Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

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...

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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2020
Ämnen:
Commentary
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7413856/
https://ncbi.nlm.nih.gov/pubmed/32763188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.06.005
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