The landscape of tolerated genetic variation in humans and primates
More On Article
- At the onset of the Late Gravettian: An updated chronology and stratigraphy for the multi-layered Gravettian open-air site Grub-Kranawetberg I (Austria).
- New Chronology Sheds Light on Human Occupation just before the onset of the Last Glacial Maximum
- Fire, temperature control, and silcrete heat treatment at Diepkloof and Mertenhof Rock Shelters, West Coast, South Africa
- Gerhard Weber and Harald Wilfing Retire
- HEAS Workshop in New Methodologies and Perspectives in Palaeolithic Archaeofauna takes place in Vienna.
Gao, H., Hamp, T., Ede, J., Schraiber, J.G., McRae, J., Singer-Berk, M., Yang, Y., Dietrich, A.S.D., Fiziev, P.P., Kuderna, L.F.K., Sundaram, L., Wu, Y., Adhikari, A., Field, Y., Chen, C., Batzoglou, S., Aguet, F., Lemire, G., Reimers, R., Balick, D., Janiak, M.C., Kuhlwilm, M., Orkin, J.D., Manu, S., Valenzuela, A., Bergman, J., Rousselle, M., Silva, F.E., Agueda, L., Blanc, J., Gut, M., de Vries, D., Goodhead, I., Harris, R.A., Raveendran, M., Jensen, A., Chuma, I.S., Horvath, J.E., Hvilsom, C., Juan, D., Frandsen, P., de Melo, F.R., Bertuol, F., Byrne, H., Sampaio, I., Farias, I., do Amaral, J.V., Messias, M., da Silva, M.N.F., Trivedi, M., Rossi, R., Hrbek, T., Andriaholinirina, N., Rabarivola, C.J., Zaramody, A., Jolly, C.J., Phillips-Conroy, J., Wilkerson, G., Abee, C., Simmons, J.H., Fernandez-Duque, E., Kanthaswamy, S., Shiferaw, F., Wu, D., Zhou, L., Shao, Y., Zhang, G., Keyyu, J.D., Knauf, S., Le, M.D., Lizano, E., Merker, S., Navarro, A., Bataillon, T., Nadler, T., Khor, C.C., Lee, J., Tan, P., Lim, W.K., Kitchener, A.C., Zinner, D., Gut, I., Melin, A., Guschanski, K., Schierup, M.H., Beck, R.M.D., Umapathy, G., Roos, C., Boubli, J.P., Lek, M., Sunyaev, S., O’Donnell-Luria, A., Rehm, H.L., Xu, J., Rogers, J., Marques-Bonet, T., Farh, K.K.-H., 2023. The landscape of tolerated genetic variation in humans and primates. Science 380, eabn8153.
INTRODUCTION
Millions of people have received genome and exome sequencing to date, a collective effort that has illuminated for the first time the vast catalog of small genetic differences that distinguish us as individuals within our species. However, the effects of most of these genetic variants remain unknown, limiting their clinical utility and actionability. New approaches that can accurately discern disease-causing from benign mutations and interpret genetic variants on a genome-wide scale would constitute a meaningful initial step towards realizing the potential of personalized genomic medicine.