High-depth African genomes inform human migration and health.
Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Publication Date: 2020-10
Variant appearance in text: EPHB2: 835G>T; Ala279Ser
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: EPHB2: 835G>T; Ala279Ser
A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.
Journal Of Medical Genetics
Kittles, R A RA; Baffoe-Bonnie, A B AB; Moses, T Y TY; Robbins, C M CM; Ahaghotu, C C; Huusko, P P; Pettaway, C C; Vijayakumar, S S; Bennett, J J; Hoke, G G; Mason, T T; Weinrich, S S; Trent, J M JM; Collins, F S FS; Mousses, S S; Bailey-Wilson, J J; Furbert-Harris, P P; Dunston, G G; Powell, I J IJ; Carpten, J D JD