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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Commentary
Acesso em linha: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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