Mapping and characterization of structural variation in 17,795 human genomes. 1.Abel HJ, Larson DE, Regier AA, et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020. doi:10.1038/s41586-020-2371-0. Read more
A structural variation reference for medical and population genetics. 1.Collins RL, Brand H, Karczewski KJ, et al. A structural variation reference for medical and population genetics. Nature. 2020;581(7809):444-451. doi:10.1038/s41586-020-2287-8. Read more
Towards a treatment for genetic prion disease: trials and biomarkers. 1.Vallabh SM, Minikel EV, Schreiber SL, Lander ES. Towards a treatment for genetic prion disease: trials and biomarkers. Lancet Neurol. 2020;19(4):361-368. doi:10.1016/S1474-4422(19)30403-X. Read more
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features. 1.Ray JP, de Boer CG, Fulco CP, et al. Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features. Nat Commun. 2020;11(1):1237. doi:10.1038/s41467-020-15022-4. Read more
Identification of cancer driver genes based on nucleotide context. 1.Dietlein F, Weghorn D, Taylor-Weiner A, et al. Identification of cancer driver genes based on nucleotide context. Nat Genet. 2020. doi:10.1038/s41588-019-0572-y. Read more
The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research. 1.Painter CA, Jain E, Tomson BN, et al. The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research. Nat Med. 2020;26(2):181-187. doi:10.1038/s41591-019-0749-z. Read more
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. 1.Basak A, Munschauer M, Lareau CA, et al. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020. doi:10.1038/s41588-019-0568-7. Read more
Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. 1.Fulco CP, Nasser J, Jones TR, et al. Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. Nat Genet. 2019;51(12):1664-1669. doi:10.1038/s41588-019-0538-0. Read more
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. 1.Khera AV, Mason-Suares H, Brockman D, et al. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol. 2019;74(21):2623-2634. doi:10.1016/j.jacc.2019.08.1060. Read more
Chinese scientists and US leadership in the life sciences. 1.Holtzman SH, Cohen R, Levin JM, Maraganore J, Signatories to the Statement. Chinese scientists and US leadership in the life sciences. Nat Biotechnol. 2019;37(11):1261-1263. doi:10.1038/s41587-019-0285-x. Read more