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Characteristics of de novo structural changes in the human genome.
Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium; Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V. Kloosterman WP, et al. Among authors: ye k. Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16. Genome Res. 2015. PMID: 25883321 Free PMC article.
Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.
Ren L, Duan X, Dong L, Zhang R, Yang J, Gao Y, Peng R, Hou W, Liu Y, Li J, Yu Y, Zhang N, Shang J, Liang F, Wang D, Chen H, Sun L, Hao L; Quartet Project Team; Scherer A, Nordlund J, Xiao W, Xu J, Tong W, Hu X, Jia P, Ye K, Li J, Jin L, Hong H, Wang J, Fan S, Fang X, Zheng Y, Shi L. Ren L, et al. Among authors: ye k. Genome Biol. 2023 Nov 27;24(1):270. doi: 10.1186/s13059-023-03109-2. Genome Biol. 2023. PMID: 38012772 Free PMC article.
1,760 results