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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.
Structural variant identification and characterization.
Balachandran P, Beck CR. Balachandran P, et al. Among authors: beck cr. Chromosome Res. 2020 Mar;28(1):31-47. doi: 10.1007/s10577-019-09623-z. Epub 2020 Jan 6. Chromosome Res. 2020. PMID: 31907725 Free PMC article.
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.
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.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
91 results