Schneider VA, Graves-Lindsay T, Howe K, et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 2017;27(5):849-864. doi:10.1101/gr.213611.116
Mitt M, Kals M, Pärn K, et al. Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. Eur J Hum Genet. 2017;25(7):869-876. doi:10.1038/ejhg.2017.51
Chen C, Xing D, Tan L, et al. Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI). Science. 2017;356(6334):189-194. doi:10.1126/science.aak9787
Chalmers ZR, Connelly CF, Fabrizio D, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9(1):34. doi:10.1186/s13073-017-0424-2
Willems T, Zielinski D, Yuan J, Gordon A, Gymrek M, Erlich Y iv. Genome-wide profiling of heritable and de novo STR variations. Nat Methods. 2017;14(6):590-592. doi:10.1038/nmeth.4267
Li X, Kim Y, Tsang EK, et al. The impact of rare variation on gene expression across tissues. Nature. 2017;550(7675):239-243. doi:10.1038/nature24267
Pedersen BS, Collins RL, Talkowski ME, Quinlan AR. Indexcov: fast coverage quality control for whole-genome sequencing. Gigascience. 2017;6(11):1-6. doi:10.1093/gigascience/gix090
Tukiainen T, Villani AC, Yen A, et al. Landscape of X chromosome inactivation across human tissues. Nature. 2017;550(7675):244-248. doi:10.1038/nature24265
Tachmazidou I, Süveges D, Min JL, et al. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet. 2017;100(6):865-884. doi:10.1016/j.ajhg.2017.04.014
Li Z, Chen J, Yu H, et al. Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. Nat Genet. 2017;49(11):1576-1583. doi:10.1038/ng.3973