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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Vollger MR, Logsdon GA, Audano PA, Sulovari A, Porubsky D, Peluso P, Wenger AM, Concepcion GT, Kronenberg ZN, Munson KM, Baker C, Sanders AD, Spierings DCJ, Lansdorp PM, Surti U, Hunkapiller MW, Eichler EE. Vollger MR, et al. Among authors: peluso p. Ann Hum Genet. 2020 Mar;84(2):125-140. doi: 10.1111/ahg.12364. Epub 2019 Nov 11. Ann Hum Genet. 2020. PMID: 31711268 Free PMC article.
Phased diploid genome assembly with single-molecule real-time sequencing.
Chin CS, Peluso P, Sedlazeck FJ, Nattestad M, Concepcion GT, Clum A, Dunn C, O'Malley R, Figueroa-Balderas R, Morales-Cruz A, Cramer GR, Delledonne M, Luo C, Ecker JR, Cantu D, Rank DR, Schatz MC. Chin CS, et al. Among authors: peluso p. Nat Methods. 2016 Dec;13(12):1050-1054. doi: 10.1038/nmeth.4035. Epub 2016 Oct 17. Nat Methods. 2016. PMID: 27749838 Free PMC article.
Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE. Huddleston J, et al. Among authors: peluso p. Genome Res. 2017 May;27(5):677-685. doi: 10.1101/gr.214007.116. Epub 2016 Nov 28. Genome Res. 2017. PMID: 27895111 Free PMC article.
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
Schneider VA, Graves-Lindsay T, Howe K, Bouk N, Chen HC, Kitts PA, Murphy TD, Pruitt KD, Thibaud-Nissen F, Albracht D, Fulton RS, Kremitzki M, Magrini V, Markovic C, McGrath S, Steinberg KM, Auger K, Chow W, Collins J, Harden G, Hubbard T, Pelan S, Simpson JT, Threadgold G, Torrance J, Wood JM, Clarke L, Koren S, Boitano M, Peluso P, Li H, Chin CS, Phillippy AM, Durbin R, Wilson RK, Flicek P, Eichler EE, Church DM. Schneider VA, et al. Among authors: peluso p. Genome Res. 2017 May;27(5):849-864. doi: 10.1101/gr.213611.116. Epub 2017 Apr 10. Genome Res. 2017. PMID: 28396521 Free PMC article.
Improved maize reference genome with single-molecule technologies.
Jiao Y, Peluso P, Shi J, Liang T, Stitzer MC, Wang B, Campbell MS, Stein JC, Wei X, Chin CS, Guill K, Regulski M, Kumari S, Olson A, Gent J, Schneider KL, Wolfgruber TK, May MR, Springer NM, Antoniou E, McCombie WR, Presting GG, McMullen M, Ross-Ibarra J, Dawe RK, Hastie A, Rank DR, Ware D. Jiao Y, et al. Among authors: peluso p. Nature. 2017 Jun 22;546(7659):524-527. doi: 10.1038/nature22971. Epub 2017 Jun 12. Nature. 2017. PMID: 28605751 Free PMC article.
Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE. Huddleston J, et al. Among authors: peluso p. Genome Res. 2018 Jan;28(1):144. doi: 10.1101/gr.233007.117. Genome Res. 2018. PMID: 29295848 Free PMC article. No abstract available.
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Wenger AM, Peluso P, Rowell WJ, Chang PC, Hall RJ, Concepcion GT, Ebler J, Fungtammasan A, Kolesnikov A, Olson ND, Töpfer A, Alonge M, Mahmoud M, Qian Y, Chin CS, Phillippy AM, Schatz MC, Myers G, DePristo MA, Ruan J, Marschall T, Sedlazeck FJ, Zook JM, Li H, Koren S, Carroll A, Rank DR, Hunkapiller MW. Wenger AM, et al. Among authors: peluso p. Nat Biotechnol. 2019 Oct;37(10):1155-1162. doi: 10.1038/s41587-019-0217-9. Epub 2019 Aug 12. Nat Biotechnol. 2019. PMID: 31406327 Free PMC article.
Highly accurate long-read HiFi sequencing data for five complex genomes.
Hon T, Mars K, Young G, Tsai YC, Karalius JW, Landolin JM, Maurer N, Kudrna D, Hardigan MA, Steiner CC, Knapp SJ, Ware D, Shapiro B, Peluso P, Rank DR. Hon T, et al. Among authors: peluso p. Sci Data. 2020 Nov 17;7(1):399. doi: 10.1038/s41597-020-00743-4. Sci Data. 2020. PMID: 33203859 Free PMC article.
97 results