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A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J; Genome Aggregation Database Consortium; Rehm HL, MacArthur DG, Tiao G, Lek M, Mootha VK, Calvo SE. Laricchia KM, et al. Among authors: shand m. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. Genome Res. 2022. PMID: 35074858 Free PMC article.
Health promotion: essential to a national preventative health strategy.
Smith JA, Gleeson S, White I, Judd J, Jones-Roberts A, Hanzar T, Roberts M, Shilton T, Shand M. Smith JA, et al. Among authors: shand m. Health Promot J Austr. 2009 Apr;20(1):5-6. doi: 10.1071/he09005. Health Promot J Austr. 2009. PMID: 19402808 No abstract available.
Risk Factors for Human Brucellosis in Northern Tanzania.
Cash-Goldwasser S, Maze MJ, Rubach MP, Biggs HM, Stoddard RA, Sharples KJ, Halliday JEB, Cleaveland S, Shand MC, Mmbaga BT, Muiruri C, Saganda W, Lwezaula BF, Kazwala RR, Maro VP, Crump JA. Cash-Goldwasser S, et al. Among authors: shand mc. Am J Trop Med Hyg. 2018 Feb;98(2):598-606. doi: 10.4269/ajtmh.17-0125. Epub 2017 Dec 7. Am J Trop Med Hyg. 2018. PMID: 29231152 Free PMC article.
Management of acute adult sexual assault.
Mein JK, Palmer CM, Shand MC, Templeton DJ, Parekh V, Mobbs M, Haig K, Huffam SE, Young L. Mein JK, et al. Among authors: shand mc. Med J Aust. 2003 Mar 3;178(5):226-30. doi: 10.5694/j.1326-5377.2003.tb05168.x. Med J Aust. 2003. PMID: 12603187 Review.
31 results