
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
By: Goodrich J.K., Singer-Berk M., Son R., Sveden A., Wood J., England E., Cole J.B., Weisburd B., Watts N., Caulkins L., Dornbos P., Koesterer R., Zappala Z., Zhang H., Maloney K.A., Dahl A., Aguilar-Salinas C.A., Atzmon G., Barajas-Olmos F., Barzilai N., Blangero J., Boerwinkle E., Bonnycastle L.L., Bottinger E., Bowden D.W., Centeno-Cruz F., Chambers J.C., Chami N., Chan E., Chan J., Cheng C.-Y., Cho Y.S., Contreras-Cubas C., Córdova E., Correa A., DeFronzo R.A., Duggirala R., Dupuis J., Garay-Sevilla M.E., García-Ortiz H., Gieger C., Glaser B., González-Villalpando C., Gonzalez M.E., Grarup N., Groop L., Gross M., Haiman C., Han S., Hanis C.L., Hansen T., Heard-Costa N.L., Henderson B.E., Hernandez J.M.M., Hwang M.Y., Islas-Andrade S., Jørgensen M.E., Kang H.M., Kim B.-J., Kim Y.J., Koistinen H.A., Kooner J.S., Kuusisto J., Kwak S.-H., Laakso M., Lange L., Lee J.-Y., Lee J., Lehman D.M., Linneberg A., Liu J., Loos R.J.F., Lyssenko V., Ma R.C.W., Martínez-Hernández A., Meigs J.B., Meitinger T., Mendoza-Caamal E., Mohlke K.L., Morris A.D., Morrison A.C., Ng M.C.Y., Nilsson P.M., O’Donnell C.J., Orozco L., Palmer C.N.A., Park K.S., Post W.S., Pedersen O., Preuss M., Psaty B.M., Reiner A.P., Revilla-Monsalve C., Rich S.S., Rotter J.I., Saleheen D., Schurmann C., Sim X., Sladek R., Small K.S., So W.Y., Spector T.D., Strauch K., Strom T.M., Tai E.S., Tam C.H.T., Teo Y.Y., Thameem F., Tomlinson B., Tracy R.P., Tuomi T., Tuomilehto J., Tusié-Luna T., van Dam R.M., Vasan R.S., Wilson J.G., Witte D.R., Wong T.-Y., Burtt N.P., Zaitlen N., McCarthy M.I., Boehnke M., Pollin T.I., Flannick J., Mercader J.M., O’Donnell-Luria A., Baxter S., Florez J.C., MacArthur D.G., Udler M.S., AMP-T2D-GENES Consortia
Published in: Nature Communications
SDGs : SDG 03 | Units: Natural Sciences | Time: 2021 | Link
Description: Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability tha (more…)