Cancer Genome Atlas Research Network, Kandoth C, Schultz N, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497(7447):67-73. doi:10.1038/nature12113.

Pasaniuc B, Rohland N, McLaren PJ, et al. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet. 2012;44(6):631-5. doi:10.1038/ng.2283.

Cefalù AB, Pirruccello JP, Noto D, et al. A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(8):2021-5. doi:10.1161/ATVBAHA.112.301101.

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.

De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209-15. doi:10.1038/nature13772.

Rees E, Kirov G, Walters JT, et al. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry. 2015;5:e607. doi:10.1038/tp.2015.99.

Nomura A, Tada H, Teramoto R, et al. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. J Cardiol. 2016;67(2):133-9. doi:10.1016/j.jjcc.2015.09.003.

Kiezun A, Garimella K, Do R, et al. Exome sequencing and the genetic basis of complex traits. Nat Genet. 2012;44(6):623-30. doi:10.1038/ng.2303.

Abreu AP, Dauber A, Macedo DB, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013;368(26):2467-75. doi:10.1056/NEJMoa1302160.

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.