Garber M, Zody MC, Arachchi HM, et al. Closing gaps in the human genome using sequencing by synthesis. Genome Biol. 2009;10(6):R60. doi:10.1186/gb-2009-10-6-r60
Sabeti PC, Varilly P, Fry B, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007;449(7164):913-8. doi:10.1038/nature06250
Sabeti PC, Schaffner SF, Fry B, et al. Positive natural selection in the human lineage. Science. 2006;312(5780):1614-20. doi:10.1126/science.1124309
Salvesen HB, Carter SL, Mannelqvist M, et al. Integrated genomic profiling of endometrial carcinoma associates aggressive tumors with indicators of PI3 kinase activation. Proc Natl Acad Sci U S A. 2009;106(12):4834-9. doi:10.1073/pnas.0806514106
Hoffman MM, Ernst J, Wilder SP, et al. Integrative annotation of chromatin elements from ENCODE data. Nucleic Acids Res. 2013;41(2):827-41. doi:10.1093/nar/gks1284
Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013;34(9):1216-20. doi:10.1002/humu.22375
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
1000 Genomes Project Consortium, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65. doi:10.1038/nature11632
Mandal PK, Ferreira LMR, Collins R, et al. Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. Cell Stem Cell. 2014;15(5):643-52. doi:10.1016/j.stem.2014.10.004
Tsankov AM, Gu H, Akopian V, et al. Transcription factor binding dynamics during human ES cell differentiation. Nature. 2015;518(7539):344-9. doi:10.1038/nature14233