An assessment of the genomic structural variation landscape in Sub-Saharan African populations.

Autor:	Wiener E; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Cottino L; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Botha G; Computational Biology Unit, University of Cape Town, Cape Town, South Africa., Nyangiri O; College of Veterinary Medicine, Animal Resources and Biosecurity Makerere University, Kampala, Uganda., Noyes H; Centre for Genomic Research, University of Liverpool, Liverpool, United Kingdom., McLeod A; Institute of Biodiversity, Animal Health and Comparative Medicine, University of Glasgow, Glasgow, United Kingdom., Jakubosky D; Department of Biomedical Informatics, University of California, San Diego, United States of America.; Institute of Genomic Medicine, University of California, San Diego, United States of America., Adebamowo C; Department of Epidemiology and Public Health and Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine, Baltimore, United States of America., Awadalla P; Ontario Institute for Cancer Research, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada., Landouré G; Faculty of Medicine and Odontostomatology University of Sciences, Techniques and Technology of Bamako, Bamako Mali.; Neurology Department Point 'G' University Hospital, Bamako, Mali., Matshaba M; Botswana-Baylor Children's Clinical Center of Excellence, Gaborone, Botswana.; Baylor College of Medicine, Houston, United States., Matovu E; College of Veterinary Medicine, Animal Resources and Biosecurity Makerere University, Kampala, Uganda., Ramsay M; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa., Simo G; Molecular Parasitology and Entomology Unit, Department of Biochemistry University of Dschang, Dschang, Cameroon., Simuunza M; Department of Disease Control, School of Veterinary Medicine University of Zambia, Lusaka, Zambia., Tiemessen C; Centre for HIV and STIs, National Institute for Communicable Diseases, National Health Laboratory Services and Faculty of Health Sciences University of the Witwatersrand, Johannesburg, South Africa., Wonkam A; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, United States of America.; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Sahibdeen V; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Hazelhurst S; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.; School of Electrical & Information Engineering, University of the Witwatersrand, Johannesburg, South Africa.
Jazyk:	angličtina
Zdroj:	Research square [Res Sq] 2024 Jul 08. Date of Electronic Publication: 2024 Jul 08.
DOI:	10.21203/rs.3.rs-4485126/v1
Abstrakt:	Structural variants are responsible for a large part of genomic variation between individuals and play a role in both common and rare diseases. Databases cataloguing structural variants notably do not represent the full spectrum of global diversity, particularly missing information from most African populations. To address this representation gap, we analysed 1,091 high-coverage African genomes, 545 of which are public data sets, and 546 which have been analysed for structural variants for the first time. Variants were called using five different tools and datasets merged and jointly called using SURVIVOR. We identified 67,795 structural variants throughout the genome, with 10,421 genes having at least one variant. Using a conservative overlap in merged data, 6,414 of the structural variants (9.5%) are novel compared to the Database of Genomic Variants. This study contributes to knowledge of the landscape of structural variant diversity in Africa and presents a reliable dataset for potential applications in population genetics and health-related research. Competing Interests: Additional Declarations: There is NO Competing Interest.
Databáze:	MEDLINE
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