1.
Karaca E, Harel T, Pehlivan D, et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015;88(3):499-513. doi:10.1016/j.neuron.2015.09.048.
1.
International Cancer Genome Consortium, Hudson TJ, Anderson W, et al. International network of cancer genome projects. Nature. 2010;464(7291):993-8. doi:10.1038/nature08987.
1.
Tamayo P, Steinhardt G, Liberzon A, Mesirov JP. The limitations of simple gene set enrichment analysis assuming gene independence. Stat Methods Med Res. 2016;25(1):472-87. doi:10.1177/0962280212460441.
1.
Ziller MJ, Hansen KD, Meissner A, Aryee MJ. Coverage recommendations for methylation analysis by whole-genome bisulfite sequencing. Nat Methods. 2015;12(3):230-2, 1 p following 232. doi:10.1038/nmeth.3152.
1.
McGuire AM, Weiner B, Park ST, et al. Comparative analysis of Mycobacterium and related Actinomycetes yields insight into the evolution of Mycobacterium tuberculosis pathogenesis. BMC Genomics. 2012;13:120. doi:10.1186/1471-2164-13-120.
1.
Raychaudhuri S, Plenge RM, Rossin EJ, et al. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 2009;5(6):e1000534. doi:10.1371/journal.pgen.1000534.
1.
Trynka G, Sandor C, Han B, et al. Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet. 2013;45(2):124-30. doi:10.1038/ng.2504.
1.
Van der Auwera GA, Carneiro MO, Hartl C, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11.10.1-33. doi:10.1002/0471250953.bi1110s43.
1.
Shaul YD, Yuan B, Thiru P, et al. MERAV: a tool for comparing gene expression across human tissues and cell types. Nucleic Acids Res. 2016;44(D1):D560-6. doi:10.1093/nar/gkv1337.
1.
Chiang DY, Getz G, Jaffe DB, et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods. 2009;6(1):99-103. doi:10.1038/nmeth.1276.