Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285-91. doi:10.1038/nature19057
Genomics Platform, Genomics Platform, Sequencing
Li H, Bielas SL, Zaki MS, et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Am J Hum Genet. 2016;99(2):501-10. doi:10.1016/j.ajhg.2016.07.004
Peloso GM, Lange LA, Varga TV, et al. Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016;9(4):368-74. doi:10.1161/CIRCGENETICS.116.001410
Kan M, Auer PL, Wang GT, et al. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. Eur J Hum Genet. 2016;24(8):1181-7. doi:10.1038/ejhg.2015.272
Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578-89. doi:10.1016/j.jacc.2016.03.520
Peloso GM, Rader DJ, Gabriel S, Kathiresan S, Daly MJ, Neale BM. Phenotypic extremes in rare variant study designs. Eur J Hum Genet. 2016;24(6):924-30. doi:10.1038/ejhg.2015.197
Burger JA, Landau DA, Taylor-Weiner A, et al. Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition. Nat Commun. 2016;7:11589. doi:10.1038/ncomms11589
Tully DC, Ogilvie CB, Batorsky RE, et al. Differences in the Selection Bottleneck between Modes of Sexual Transmission Influence the Genetic Composition of the HIV-1 Founder Virus. PLoS Pathog. 2016;12(5):e1005619. doi:10.1371/journal.ppat.1005619
Giannakis M, Mu XJ, Shukla SA, et al. Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma. Cell Rep. 2016. doi:10.1016/j.celrep.2016.03.075
Neafsey DE, Juraska M, Bedford T, et al. Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria Vaccine. N Engl J Med. 2015;373(21):2025-2037. doi:10.1056/NEJMoa1505819