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Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet.
Jia P, Dong L, Yang X, Wang B, Bush SJ, Wang T, Lin J, Wang S, Zhao X, Xu T, Che Y, Dang N, Ren L, Zhang Y, Wang X, Liang F, Wang Y, Ruan J, Xia H, Zheng Y, Shi L, Lv Y, Wang J, Ye K. Jia P, et al. Among authors: bush sj. Genome Biol. 2023 Dec 4;24(1):277. doi: 10.1186/s13059-023-03116-3. Genome Biol. 2023. PMID: 38049885 Free PMC article.
De novo and somatic structural variant discovery with SVision-pro.
Wang S, Lin J, Jia P, Xu T, Li X, Liu Y, Xu D, Bush SJ, Meng D, Ye K. Wang S, et al. Among authors: bush sj. Nat Biotechnol. 2024 Mar 22. doi: 10.1038/s41587-024-02190-7. Online ahead of print. Nat Biotechnol. 2024. PMID: 38519720
Centromere Landscapes Resolved from Hundreds of Human Genomes.
Gao S, Zhang Y, Bush SJ, Wang B, Yang X, Ye K. Gao S, et al. Among authors: bush sj. Genomics Proteomics Bioinformatics. 2024 Dec 3;22(5):qzae071. doi: 10.1093/gpbjnl/qzae071. Genomics Proteomics Bioinformatics. 2024. PMID: 39423139 Free PMC article.
Editorial: Emerging talents in human and medical genomics.
Meyer V, Bush SJ, Botes A, Kaur M. Meyer V, et al. Among authors: bush sj. Front Genet. 2024 Sep 30;15:1497486. doi: 10.3389/fgene.2024.1497486. eCollection 2024. Front Genet. 2024. PMID: 39403118 Free PMC article. No abstract available.
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. Wood KA, et al. Among authors: bush sj. Am J Hum Genet. 2024 Sep 5;111(9):1953-1969. doi: 10.1016/j.ajhg.2024.07.006. Epub 2024 Aug 7. Am J Hum Genet. 2024. PMID: 39116879 Free PMC article.
76 results