The landscape of tolerated genetic variation in humans and primates
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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.