Sankararaman S, Mallick S, Dannemann M, et al. The genomic landscape of Neanderthal ancestry in present-day humans. Nature. 2014;507(7492):354-7. doi:10.1038/nature12961
Leitsalu L, Haller T, Esko T, et al. Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int J Epidemiol. 2015;44(4):1137-47. doi:10.1093/ije/dyt268
Ordulu Z, Wong KE, Currall BB, et al. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014;94(5):695-709. doi:10.1016/j.ajhg.2014.03.020
Torres-GarcÃa W, Zheng S, Sivachenko A, et al. PRADA: pipeline for RNA sequencing data analysis. Bioinformatics. 2014;30(15):2224-6. doi:10.1093/bioinformatics/btu169
Gong Y, Zack TI, Morris LGT, et al. Pan-cancer genetic analysis identifies PARK2 as a master regulator of G1/S cyclins. Nat Genet. 2014;46(6):588-94. doi:10.1038/ng.2981
Miranda KC, Bond DT, Levin JZ, et al. Massively parallel sequencing of human urinary exosome/microvesicle RNA reveals a predominance of non-coding RNA. PLoS One. 2014;9(5):e96094. doi:10.1371/journal.pone.0096094
Helman E, Lawrence MS, Stewart C, Sougnez C, Getz G, Meyerson M. Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing. Genome Res. 2014;24(7):1053-63. doi:10.1101/gr.163659.113
Deelen P, Menelaou A, van Leeuwen EM, et al. Improved imputation quality of low-frequency and rare variants in European samples using the ’Genome of The Netherlands’. Eur J Hum Genet. 2014;22(11):1321-6. doi:10.1038/ejhg.2014.19
Talwalkar A, Liptrap J, Newcomb J, et al. SMaSH: a benchmarking toolkit for human genome variant calling. Bioinformatics. 2014;30(19):2787-95. doi:10.1093/bioinformatics/btu345
Li H. Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics. 2014;30(20):2843-51. doi:10.1093/bioinformatics/btu356