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Page 1
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Tukiainen T, et al. Among authors: fleharty m. Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Nature. 2017. PMID: 29022598 Free PMC article.
Corrigendum: Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, Consortium G, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Tukiainen T, et al. Among authors: fleharty m. Nature. 2018 Mar 7;555(7695):274. doi: 10.1038/nature25993. Nature. 2018. PMID: 29517003
A synthetic-diploid benchmark for accurate variant-calling evaluation.
Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D. Li H, et al. Among authors: fleharty m. Nat Methods. 2018 Aug;15(8):595-597. doi: 10.1038/s41592-018-0054-7. Epub 2018 Jul 16. Nat Methods. 2018. PMID: 30013044 Free PMC article.
Best practices for benchmarking germline small-variant calls in human genomes.
Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Krusche P, et al. Among authors: fleharty m. Nat Biotechnol. 2019 May;37(5):555-560. doi: 10.1038/s41587-019-0054-x. Epub 2019 Mar 11. Nat Biotechnol. 2019. PMID: 30858580 Free PMC article.
Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.
Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Krusche P, et al. Among authors: fleharty m. Nat Biotechnol. 2019 May;37(5):567. doi: 10.1038/s41587-019-0108-0. Nat Biotechnol. 2019. PMID: 30899106
Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms.
Costello M, Fleharty M, Abreu J, Farjoun Y, Ferriera S, Holmes L, Granger B, Green L, Howd T, Mason T, Vicente G, Dasilva M, Brodeur W, DeSmet T, Dodge S, Lennon NJ, Gabriel S. Costello M, et al. Among authors: fleharty m. BMC Genomics. 2018 May 8;19(1):332. doi: 10.1186/s12864-018-4703-0. BMC Genomics. 2018. PMID: 29739332 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Liquid biopsy detection of genomic alterations in pediatric brain tumors from cell-free DNA in peripheral blood, CSF, and urine.
Pagès M, Rotem D, Gydush G, Reed S, Rhoades J, Ha G, Lo C, Fleharty M, Duran M, Jones R, Becker S, Haller M, Sinai CE, Goumnerova L, Golub TR, Love JC, Ligon KL, Wright KD, Adalsteinsson VA, Beroukhim R, Bandopadhayay P. Pagès M, et al. Among authors: fleharty m. Neuro Oncol. 2022 Aug 1;24(8):1352-1363. doi: 10.1093/neuonc/noab299. Neuro Oncol. 2022. PMID: 34984433 Free PMC article.
Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer.
Parsons HA, Rhoades J, Reed SC, Gydush G, Ram P, Exman P, Xiong K, Lo CC, Li T, Fleharty M, Kirkner GJ, Rotem D, Cohen O, Yu F, Fitarelli-Kiehl M, Leong KW, Hughes ME, Rosenberg SM, Collins LC, Miller KD, Blumenstiel B, Trippa L, Cibulskis C, Neuberg DS, DeFelice M, Freeman SS, Lennon NJ, Wagle N, Ha G, Stover DG, Choudhury AD, Getz G, Winer EP, Meyerson M, Lin NU, Krop I, Love JC, Makrigiorgos GM, Partridge AH, Mayer EL, Golub TR, Adalsteinsson VA. Parsons HA, et al. Among authors: fleharty m. Clin Cancer Res. 2020 Jun 1;26(11):2556-2564. doi: 10.1158/1078-0432.CCR-19-3005. Epub 2020 Mar 13. Clin Cancer Res. 2020. PMID: 32170028 Free PMC article.
Donor Clonal Hematopoiesis and Recipient Outcomes After Transplantation.
Gibson CJ, Kim HT, Zhao L, Murdock HM, Hambley B, Ogata A, Madero-Marroquin R, Wang S, Green L, Fleharty M, Dougan T, Cheng CA, Blumenstiel B, Cibulskis C, Tsuji J, Duran M, Gocke CD, Antin JH, Nikiforow S, DeZern AE, Chen YB, Ho VT, Jones RJ, Lennon NJ, Walt DR, Ritz J, Soiffer RJ, Gondek LP, Lindsley RC. Gibson CJ, et al. Among authors: fleharty m. J Clin Oncol. 2022 Jan 10;40(2):189-201. doi: 10.1200/JCO.21.02286. Epub 2021 Nov 18. J Clin Oncol. 2022. PMID: 34793200 Free PMC article.
18 results