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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

Fromer M, Moran JL, Chambert K, et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012;91(4):597-607. doi:10.1016/j.ajhg.2012.08.005

Common polymorphic transcript variation in human disease.

Fraser HB, Xie X. Common polymorphic transcript variation in human disease. Genome Res. 2009;19(4):567-75. doi:10.1101/gr.083477.108

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

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

An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts.

Hoeppner MP, Lundquist A, Pirun M, et al. An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. PLoS One. 2014;9(3):e91172. doi:10.1371/journal.pone.0091172

OTX2 duplication is implicated in hemifacial microsomia.

Zielinski D, Markus B, Sheikh M, et al. OTX2 duplication is implicated in hemifacial microsomia. PLoS One. 2014;9(5):e96788. doi:10.1371/journal.pone.0096788

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

Paraboschi EM, Rimoldi V, Soldà G, et al. Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. Hum Mol Genet. 2014;23(25):6746-61. doi:10.1093/hmg/ddu392

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015;7(270):270ra6. doi:10.1126/scitranslmed.3010134

Quantitative visualization of alternative exon expression from RNA-seq data.

Katz Y, Wang ET, Silterra J, et al. Quantitative visualization of alternative exon expression from RNA-seq data. Bioinformatics. 2015;31(14):2400-2. doi:10.1093/bioinformatics/btv034

PKM2 isoform-specific deletion reveals a differential requirement for pyruvate kinase in tumor cells.

Israelsen WJ, Dayton TL, Davidson SM, et al. PKM2 isoform-specific deletion reveals a differential requirement for pyruvate kinase in tumor cells. Cell. 2013;155(2):397-409. doi:10.1016/j.cell.2013.09.025

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.

Diogo D, Bastarache L, Liao KP, et al. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One. 2015;10(4):e0122271. doi:10.1371/journal.pone.0122271