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
Publications
Marshall CR, Bick D, Belmont JW, et al. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020;12(1):48. doi:10.1186/s13073-020-00748-z
Knevel R, le Cessie S, Terao CC, et al. Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis. Sci Transl Med. 2020;12(545). doi:10.1126/scitranslmed.aay1548
Wang Q, Pierce-Hoffman E, Cummings BB, et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020;11(1):2539. doi:10.1038/s41467-019-12438-5
Whiffin N, Karczewski KJ, Zhang X, et al. Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals. Nat Commun. 2020;11(1):2523. doi:10.1038/s41467-019-10717-9
Goodman RP, Markhard AL, Shah H, et al. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. 2020. doi:10.1038/s41586-020-2337-2
Whiffin N, Armean IM, Kleinman A, et al. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020. doi:10.1038/s41591-020-0893-5
Modell AE, Siriwardena SU, Choudhary A. A Jumbo Phage Forms a Nucleus-like Compartment to Evade Bacterial Defense Systems. Biochemistry. 2020;59(20):1869-1870. doi:10.1021/acs.biochem.0c00273
Went M, Cornish AJ, Law PJ, et al. Search for multiple myeloma risk factors using Mendelian randomization. Blood Adv. 2020;4(10):2172-2179. doi:10.1182/bloodadvances.2020001502
Bayat A, Knaus A, Pendziwiat M, et al. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020. doi:10.1111/epi.16545