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Page 1
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. Sanghvi RV, et al. Genet Med. 2018 Aug;20(8):855-866. doi: 10.1038/gim.2017.192. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144510 Free PMC article.
A recurrent novel MGA-NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcoma.
Diolaiti D, Dela Cruz FS, Gundem G, Bouvier N, Boulad M, Zhang Y, Chou AJ, Dunkel IJ, Sanghvi R, Shah M, Geiger H, Rahman S, Felice V, Wrzeszczynski KO, Darnell RB, Antonescu CR, French CA, Papaemmanuil E, Kung AL, Shukla N. Diolaiti D, et al. Among authors: sanghvi r. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003194. doi: 10.1101/mcs.a003194. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30552129 Free PMC article.
Inherent mosaicism and extensive mutation of human placentas.
Coorens THH, Oliver TRW, Sanghvi R, Sovio U, Cook E, Vento-Tormo R, Haniffa M, Young MD, Rahbari R, Sebire N, Campbell PJ, Charnock-Jones DS, Smith GCS, Behjati S. Coorens THH, et al. Among authors: sanghvi r. Nature. 2021 Apr;592(7852):80-85. doi: 10.1038/s41586-021-03345-1. Epub 2021 Mar 10. Nature. 2021. PMID: 33692543 Free PMC article.
The mutational landscape of human somatic and germline cells.
Moore L, Cagan A, Coorens THH, Neville MDC, Sanghvi R, Sanders MA, Oliver TRW, Leongamornlert D, Ellis P, Noorani A, Mitchell TJ, Butler TM, Hooks Y, Warren AY, Jorgensen M, Dawson KJ, Menzies A, O'Neill L, Latimer C, Teng M, van Boxtel R, Iacobuzio-Donahue CA, Martincorena I, Heer R, Campbell PJ, Fitzgerald RC, Stratton MR, Rahbari R. Moore L, et al. Among authors: sanghvi r. Nature. 2021 Sep;597(7876):381-386. doi: 10.1038/s41586-021-03822-7. Epub 2021 Aug 25. Nature. 2021. PMID: 34433962
Extensive phylogenies of human development inferred from somatic mutations.
Coorens THH, Moore L, Robinson PS, Sanghvi R, Christopher J, Hewinson J, Przybilla MJ, Lawson ARJ, Spencer Chapman M, Cagan A, Oliver TRW, Neville MDC, Hooks Y, Noorani A, Mitchell TJ, Fitzgerald RC, Campbell PJ, Martincorena I, Rahbari R, Stratton MR. Coorens THH, et al. Among authors: sanghvi r. Nature. 2021 Sep;597(7876):387-392. doi: 10.1038/s41586-021-03790-y. Epub 2021 Aug 25. Nature. 2021. PMID: 34433963
Author Correction: Inherent mosaicism and extensive mutation of human placentas.
Coorens THH, Oliver TRW, Sanghvi R, Sovio U, Cook E, Vento-Tormo R, Haniffa M, Young MD, Rahbari R, Sebire N, Campbell PJ, Charnock-Jones DS, Smith GCS, Behjati S. Coorens THH, et al. Among authors: sanghvi r. Nature. 2022 Mar;603(7901):E17. doi: 10.1038/s41586-021-04347-9. Nature. 2022. PMID: 35228729 No abstract available.
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J; Genomics England Research Consortium; Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R, Hurles M. Kaplanis J, et al. Among authors: sanghvi r. Nature. 2022 May;605(7910):503-508. doi: 10.1038/s41586-022-04712-2. Epub 2022 May 11. Nature. 2022. PMID: 35545669 Free PMC article.
Clonal diversification and histogenesis of malignant germ cell tumours.
Oliver TRW, Chappell L, Sanghvi R, Deighton L, Ansari-Pour N, Dentro SC, Young MD, Coorens THH, Jung H, Butler T, Neville MDC, Leongamornlert D, Sanders MA, Hooks Y, Cagan A, Mitchell TJ, Cortes-Ciriano I, Warren AY, Wedge DC, Heer R, Coleman N, Murray MJ, Campbell PJ, Rahbari R, Behjati S. Oliver TRW, et al. Among authors: sanghvi r. Nat Commun. 2022 Aug 11;13(1):4272. doi: 10.1038/s41467-022-31375-4. Nat Commun. 2022. PMID: 35953478 Free PMC article.
Insights into non-crossover recombination from long-read sperm sequencing.
Schweiger R, Lee S, Zhou C, Yang TP, Smith K, Li S, Sanghvi R, Neville M, Mitchell E, Nessa A, Wadge S, Small KS, Campbell PJ, Sudmant PH, Rahbari R, Durbin R. Schweiger R, et al. Among authors: sanghvi r. bioRxiv [Preprint]. 2024 Jul 7:2024.07.05.602249. doi: 10.1101/2024.07.05.602249. bioRxiv. 2024. PMID: 39005338 Free PMC article. Preprint.
36 results