The landscape of tolerated genetic variation in humans and primates
More On Article
- "Archäologie am Berg". Public Weekend of Archaeology in Hallstatt in September.
- 2023 CALL FOR NOMINATIONS - The Rohlf Medal
- 20th anniversary of the Laboratory for scanning electron microscopy at the Vienna Institute for Archaeological Science (VIAS), University Vienna, 14.11.2024, 15:00
- 3D visualization of bioerosion in archaeological bone
- A comparative archaeometric study of Late Bronze Age Black Lustrous and Red Lustrous Wheel-made wares from the Eastern Mediterranean
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.