Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: CD4: T233M; rs201257539
Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
Nature Genetics
, ; Baud, Amelie A; Hermsen, Roel R; Guryev, Victor V; Stridh, Pernilla P; Graham, Delyth D; McBride, Martin W MW; Foroud, Tatiana T; Calderari, Sophie S; Diez, Margarita M; Ockinger, Johan J; Beyeen, Amennai D AD; Gillett, Alan A; Abdelmagid, Nada N; Guerreiro-Cacais, Andre Ortlieb AO; Jagodic, Maja M; Tuncel, Jonatan J; Norin, Ulrika U; Beattie, Elisabeth E; Huynh, Ngan N; Miller, William H WH; Koller, Daniel L DL; Alam, Imranul I; Falak, Samreen S; Osborne-Pellegrin, Mary M; Martinez-Membrives, Esther E; Canete, Toni T; Blazquez, Gloria G; Vicens-Costa, Elia E; Mont-Cardona, Carme C; Diaz-Moran, Sira S; Tobena, Adolf A; Hummel, Oliver O; Zelenika, Diana D; Saar, Kathrin K; Patone, Giannino G; Bauerfeind, Anja A; Bihoreau, Marie-Therese MT; Heinig, Matthias M; Lee, Young-Ae YA; Rintisch, Carola C; Schulz, Herbert H; Wheeler, David A DA; Worley, Kim C KC; Muzny, Donna M DM; Gibbs, Richard A RA; Lathrop, Mark M; Lansu, Nico N; Toonen, Pim P; Ruzius, Frans Paul FP; de Bruijn, Ewart E; Hauser, Heidi H; Adams, David J DJ; Keane, Thomas T; Atanur, Santosh S SS; Aitman, Tim J TJ; Flicek, Paul P; Malinauskas, Tomas T; Jones, E Yvonne EY; Ekman, Diana D; Lopez-Aumatell, Regina R; Dominiczak, Anna F AF; Johannesson, Martina M; Holmdahl, Rikard R; Olsson, Tomas T; Gauguier, Dominique D; Hubner, Norbert N; Fernandez-Teruel, Alberto A; Cuppen, Edwin E; Mott, Richard R; Flint, Jonathan J