Lange LA, Hu Y, Zhang H, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014;94(2):233-45. doi:10.1016/j.ajhg.2014.01.010
Okada Y, Diogo D, Greenberg JD, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014;9(2):e87645. doi:10.1371/journal.pone.0087645
Brastianos PK, Taylor-Weiner A, Manley PE, et al. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014;46(2):161-5. doi:10.1038/ng.2868
Lohr JG, Adalsteinsson VA, Cibulskis K, et al. Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer. Nat Biotechnol. 2014;32(5):479-84. doi:10.1038/nbt.2892
Fromer M, Purcell SM. Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data. Curr Protoc Hum Genet. 2014;81:7.23.1-21. doi:10.1002/0471142905.hg0723s81
Wang SR, Agarwala V, Flannick J, et al. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet. 2014;94(5):710-20. doi:10.1016/j.ajhg.2014.03.019
Kukurba KR, Zhang R, Li X, et al. Allelic expression of deleterious protein-coding variants across human tissues. PLoS Genet. 2014;10(5):e1004304. doi:10.1371/journal.pgen.1004304
Van Allen EM, Wagle N, Stojanov P, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014;20(6):682-8. doi:10.1038/nm.3559
Yu Y, Triebwasser MP, Wong EKS, et al. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014;23(19):5283-93. doi:10.1093/hmg/ddu226
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