Sobreira NLM, Arachchi H, Buske OJ, et al. Matchmaker Exchange. Curr Protoc Hum Genet. 2017;95:9.31.1-9.31.15. doi:10.1002/cphg.50
Giacomelli AO, Yang X, Lintner RE, et al. Mutational processes shape the landscape of TP53 mutations in human cancer. Nat Genet. 2018;50(10):1381-1387. doi:10.1038/s41588-018-0204-y
Mashl J, Scott AD, Huang K lin, et al. GenomeVIP: a cloud platform for genomic variant discovery and interpretation. Genome Res. 2017;27(8):1450-1459. doi:10.1101/gr.211656.116
Dyke SOM, Knoppers BM, Hamosh A, et al. "Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat. 2017;38(10):1281-1285. doi:10.1002/humu.23278
Wala JA, Bandopadhayay P, Greenwald NF, et al. SvABA: genome-wide detection of structural variants and indels by local assembly. Genome Res. 2018;28(4):581-591. doi:10.1101/gr.221028.117
Lim ET, Uddin M, De Rubeis S, et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017;20(9):1217-1224. doi:10.1038/nn.4598
Li H, Bloom JM, Farjoun Y, et al. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods. 2018;15(8):595-597. doi:10.1038/s41592-018-0054-7
Ni G, Moser G, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee H. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. Am J Hum Genet. 2018;102(6):1185-1194. doi:10.1016/j.ajhg.2018.03.021
Yang Y, Zhao H, Boomsma DI, et al. Molecular genetic overlap between migraine and major depressive disorder. Eur J Hum Genet. 2018;26(8):1202-1216. doi:10.1038/s41431-018-0150-2
van Doormaal PTC, Ticozzi N, Weishaupt JH, et al. The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat. 2017;38(11):1534-1541. doi:10.1002/humu.23295