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Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers.
Kim H, Nguyen NP, Turner K, Wu S, Gujar AD, Luebeck J, Liu J, Deshpande V, Rajkumar U, Namburi S, Amin SB, Yi E, Menghi F, Schulte JH, Henssen AG, Chang HY, Beck CR, Mischel PS, Bafna V, Verhaak RGW. Kim H, et al. Among authors: beck cr. Nat Genet. 2020 Sep;52(9):891-897. doi: 10.1038/s41588-020-0678-2. Epub 2020 Aug 17. Nat Genet. 2020. PMID: 32807987 Free PMC article.
Hotspots of Human Mutation.
Nesta AV, Tafur D, Beck CR. Nesta AV, et al. Among authors: beck cr. Trends Genet. 2021 Aug;37(8):717-729. doi: 10.1016/j.tig.2020.10.003. Epub 2020 Nov 13. Trends Genet. 2021. PMID: 33199048 Free PMC article. Review.
SVision: a deep learning approach to resolve complex structural variants.
Lin J, Wang S, Audano PA, Meng D, Flores JI, Kosters W, Yang X, Jia P, Marschall T, Beck CR, Ye K. Lin J, et al. Among authors: beck cr. Nat Methods. 2022 Oct;19(10):1230-1233. doi: 10.1038/s41592-022-01609-w. Epub 2022 Sep 16. Nat Methods. 2022. PMID: 36109679 Free PMC article.
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K; Human Genome Structural Variation Consortium (HGSVC); O'Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C. Hallast P, et al. Among authors: beck cr. Nature. 2023 Sep;621(7978):355-364. doi: 10.1038/s41586-023-06425-6. Epub 2023 Aug 23. Nature. 2023. PMID: 37612510 Free PMC article.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. Pehlivan D, et al. Among authors: beck cr. Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17. Genet Med. 2016. PMID: 26378787 Free PMC article.
91 results