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A complete pedigree-based graph workflow for rare candidate variant analysis.
Markello C, Huang C, Rodriguez A, Carroll A, Chang PC, Eizenga J, Markello T, Haussler D, Paten B. Markello C, et al. Among authors: carroll a. Genome Res. 2022 May;32(5):893-903. doi: 10.1101/gr.276387.121. Epub 2022 Apr 28. Genome Res. 2022. PMID: 35483961 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
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: carroll a. 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.
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Chin CS, Wagner J, Zeng Q, Garrison E, Garg S, Fungtammasan A, Rautiainen M, Aganezov S, Kirsche M, Zarate S, Schatz MC, Xiao C, Rowell WJ, Markello C, Farek J, Sedlazeck FJ, Bansal V, Yoo B, Miller N, Zhou X, Carroll A, Barrio AM, Salit M, Marschall T, Dilthey AT, Zook JM. Chin CS, et al. Among authors: carroll a. Nat Commun. 2020 Sep 22;11(1):4794. doi: 10.1038/s41467-020-18564-9. Nat Commun. 2020. PMID: 32963235 Free PMC article.
A population-specific reference panel for improved genotype imputation in African Americans.
O'Connell J, Yun T, Moreno M, Li H, Litterman N, Kolesnikov A, Noblin E, Chang PC, Shastri A, Dorfman EH, Shringarpure S; 23andMe Research Team; Auton A, Carroll A, McLean CY. O'Connell J, et al. Among authors: carroll a. Commun Biol. 2021 Nov 5;4(1):1269. doi: 10.1038/s42003-021-02777-9. Commun Biol. 2021. PMID: 34741098 Free PMC article.
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Sirén J, et al. Among authors: carroll a. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. Science. 2021. PMID: 34914532 Free PMC article.
Hidden biases in germline structural variant detection.
Khayat MM, Sahraeian SME, Zarate S, Carroll A, Hong H, Pan B, Shi L, Gibbs RA, Mohiyuddin M, Zheng Y, Sedlazeck FJ. Khayat MM, et al. Among authors: carroll a. Genome Biol. 2021 Dec 20;22(1):347. doi: 10.1186/s13059-021-02558-x. Genome Biol. 2021. PMID: 34930391 Free PMC article.
1,715 results