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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC, Bahlo M, Eberle MA. Dolzhenko E, et al. Among authors: narzisi g. Genome Biol. 2020 Apr 28;21(1):102. doi: 10.1186/s13059-020-02017-z. Genome Biol. 2020. PMID: 32345345 Free PMC article.
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring.
Pinto DC, Delgado IC, Yang H, Clemenceau A, Corvelo A, Narzisi G, Musunuri R, Berger JM, Hendricks LE, Tokumura K, Luo N, Li H, Oury F, Ducy P, Yadav VK, Li X, Karsenty G. Pinto DC, et al. Among authors: narzisi g. bioRxiv [Preprint]. 2023 Aug 14:2023.08.11.552969. doi: 10.1101/2023.08.11.552969. bioRxiv. 2023. Update in: EMBO Rep. 2024 Feb;25(2):593-615. doi: 10.1038/s44319-023-00031-3 PMID: 37645714 Free PMC article. Updated. Preprint.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D; NYGC ALS Consortium; Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Humphrey J, et al. Among authors: narzisi g. Nat Neurosci. 2023 Jan;26(1):150-162. doi: 10.1038/s41593-022-01205-3. Epub 2022 Dec 8. Nat Neurosci. 2023. PMID: 36482247
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies.
Park J, Cook DE, Chang PC, Kolesnikov A, Brambrink L, Mier JC, Gardner J, McNulty B, Sacco S, Keskus A, Bryant A, Ahmad T, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Yoo B, Pushel I, Lansdon LA, Bi C, Walter A, Gibson M, Pastinen T, Farooqi MS, Robine N, Miga KH, Carroll A, Kolmogorov M, Paten B, Shafin K. Park J, et al. Among authors: narzisi g. bioRxiv [Preprint]. 2024 Aug 19:2024.08.16.608331. doi: 10.1101/2024.08.16.608331. bioRxiv. 2024. PMID: 39229187 Free PMC article. Preprint.
Efficient indexing and querying of annotations in a pangenome graph.
Novak AM, Chung D, Hickey G, Djebali S, Yokoyama TT, Garrison E, Narzisi G, Paten B, Monlong J. Novak AM, et al. Among authors: narzisi g. bioRxiv [Preprint]. 2024 Oct 15:2024.10.12.618009. doi: 10.1101/2024.10.12.618009. bioRxiv. 2024. PMID: 39464141 Free PMC article. Preprint.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group; Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA. Dolzhenko E, et al. Among authors: narzisi g. Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8. Genome Res. 2017. PMID: 28887402 Free PMC article.
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, Emig-Agius D, Gross A, Narzisi G, Bowman B, Scheffler K, van Vugt JJFA, French C, Sanchis-Juan A, Ibáñez K, Tucci A, Lajoie BR, Veldink JH, Raymond FL, Taft RJ, Bentley DR, Eberle MA. Dolzhenko E, et al. Among authors: narzisi g. Bioinformatics. 2019 Nov 1;35(22):4754-4756. doi: 10.1093/bioinformatics/btz431. Bioinformatics. 2019. PMID: 31134279 Free PMC article.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: narzisi g. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
Indel variant analysis of short-read sequencing data with Scalpel.
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G. Fang H, et al. Among authors: narzisi g. Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17. Nat Protoc. 2016. PMID: 27854363 Free PMC article.
Somatic variant analysis of linked-reads sequencing data with Lancet.
Musunuri R, Arora K, Corvelo A, Shah M, Shelton J, Zody MC, Narzisi G. Musunuri R, et al. Among authors: narzisi g. Bioinformatics. 2021 Jul 27;37(13):1918-1919. doi: 10.1093/bioinformatics/btaa888. Bioinformatics. 2021. PMID: 33241313 Free PMC article.
44 results