Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry

Autor: Chen, Zhishan, Guo, Xingyi, Long, Jirong, Ping, Jie, Li, Bingshan, Fadden, Mary Kay, Ahearn, Thomas U., Stram, Daniel O., Shu, Xiao-ou, Jia, Guochong, Figueroa, Jonine, Adjei, Robertson, Afriyie, Lucy, Adjei, Anthony, Dedey, Florence, Vanderpuye, Verna, Okyne, Victoria, Ohene Oti, Naomi, Tay, Evelyn, Adu‐aryee, Kenu, Angela, Ekpedzor, Obed, Alcpaloo, Marion, Boakye, Isaac, Arhin, Bernard, Assimah, Emmanuel, Ka‐chungu, Samuel, Oppong, Joseph, Osei‐bonsu, Ernest, Frempong, Margaret, Brew Abaidoo, Emma, Nortey Mensah, Bridget, Amanama, Samuel, Agyapong, Prince, Boateng, Debora, Agyei, Ansong Thomas, Opoku, Richard, Owusu Gyimah, Kofi, Brinton, Louise, Brotzman, Michelle, Niwa, Shelley, Singh, Usha, Truelove, Ann, Biritwum, Richard, Palmer, Julie R., Sanderson, Maureen, Haiman, Christopher A., Blot, William J., Garcia-closas, Montserrat, Cai, Qiuyin, Zheng, Wei

Publikováno v: Hum Genet
Chen, Z, Guo, X, Long, J, Ping, J, Li, B, Fadden, M K, Ahearn, T U, Stram, D O, Shu, X, Jia, G, Figueroa, J, Adjei, R, Afriyie, L, Adjei, A, Dedey, F, Vanderpuye, V, Okyne, V, Ohene Oti, N, Tay, E, Adu-aryee, Kenu, A, Ekpedzor, O, Alcpaloo, M, Boakye, I, Arhin, B, Assimah, E, Ka-chungu, S, Oppong, J, Osei-bonsu, E, Frempong, M, Brew Abaidoo, E, Nortey Mensah, B, Amanama, S, Agyapong, P, Boateng, D, Agyei, A T, Opoku, R, Owusu Gyimah, K, Brinton, L, Brotzman, M, Niwa, S, Singh, U, Truelove, A, Biritwum, R, Palmer, J R, Sanderson, M, Haiman, C A, Blot, W J, Garcia-closas, M, Cai, Q & Zheng, W 2021, ' Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry ', Human Genetics . https://doi.org/10.1007/s00439-021-02342-8

Single germline nucleotide pathogenic variants have been identified in 12 breast cancer predisposition genes, but structural deletions in these genes remain poorly characterized. We conducted in-depth whole genome sequencing (WGS) in genomic DNA samp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c902f4c7ca6809605a90fcd21261e786
https://doi.org/10.1007/s00439-021-02342-8