-
Wang, QS, Kelley, DR, Ulirsch, J, Kanai, M, Sadhuka, S, Cui, R, Albors, C, Cheng, N, Okada, Y, Project, TBJ, et al.
Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs.
2024
view publication
-
Goodrich, J, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, JB, Weisburd, B, Watts, N, Zappala, Z, et al.
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
2024
view publication
-
Lowther, C, Valkanas, E, Giordano, JL, Wang, HZ, Currall, BB, O’Keefe, K, Pierce-Hoffman, E, Kurtas, NE, Whelan, CW, Hao, SP, et al.
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies.
2024
view publication
-
Aguet, F, Barbeira, AN, Bonazzola, R, Brown, A, Castel, SE, Jo, B, Kasela, S, Kim-Hellmuth, S, Liang, Y, Oliva, M, et al.
The GTEx Consortium atlas of genetic regulatory effects across human tissues.
2024
view publication
-
Collins, RL, Brand, H, Karczewski, KJ, Zhao, X, Alföldi, J, Francioli, LC, Khera, AV, Lowther, C, Gauthier, LD, Wang, H, et al.
An open resource of structural variation for medical and population genetics.
2024
view publication