Browsing by Author "Heather Seymour"

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    Coronavirus Host Genomics Study: South Africa (COVIGen-SA)
    (2022-10-06) Andrew K. May; Heather Seymour; Harriet Etheredge; Heather Maher; Marta C. Nunes; ShabirA.Madhi; SimisoM. Sokhela; W. D. FrancoisVenter; Neil Martinson; Firdaus Nabeemeeah; Cheryl Cohen; Jocelyn Moyes; Sibongile Walaza; Stefano Tempia; Jackie Kleynhans; Anne von Gottberg; Jeremy Nel; Halima Dawood; Ebrahim Variava; Stephen Tollman; Kathleen Kahn; KobusHerbst; EmilyB.Wong; CarolineT.Tiemessen; Alex van Blydenstein; Lyle Murray; Michelle Venter; June Fabian; Miche´le Ramsay
    However, continental Africans are yet to be adequately represented in such studies despite the importance of genetic factors in understanding Africa’s response to the pandemic. We describe the development of a research resource for coronavirus host genomics studies in South Africa known as COVIGen-SA—a multicollaborator strategic partnership designed to provide harmonised demographic, clinical, and genetic information specific to Black South Africans with COVID-19. Over 2,000 participants have been recruited to date. Preliminary results on 1,354 SARS-CoV-2 positive participants from four participating studies showed that 64.7% were female, 333 had severe disease, and 329 were people living with HIV. *rough this resource, we aim to provide insights into host genetic factors relevant to African-ancestry populations, using both genome-wide association testing and targeted sequencing of important genomic loci. *is project will promote and enhance partnerships, build skills, and develop resources needed to address the COVID-19 burden and associated risk factors in South African communities.
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    Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
    Heather Seymour; Candice Feben; Patracia Nevondwe; Robyn Kerr; C Spencer; Mabyalwa Mudau; E Honey; Zane Lombard; Amanda Krause; Nadia Carstens