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Publications

Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.

Liang J, Le TH, Edwards DRV, et al. Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. PLoS Genet. 2017;13(5):e1006728. doi:10.1371/journal.pgen.1006728

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Perić S, Glumac JN, Topf A, et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017;25(5):572-581. doi:10.1038/ejhg.2017.16

Post-transcriptional regulation across human tissues.

Franks A, Airoldi E, Slavov N. Post-transcriptional regulation across human tissues. PLoS Comput Biol. 2017;13(5):e1005535. doi:10.1371/journal.pcbi.1005535

The Hierarchical Taxonomy of Psychopathology (HiTOP): A dimensional alternative to traditional nosologies.

Kotov R, Krueger RF, Watson D, et al. The Hierarchical Taxonomy of Psychopathology (HiTOP): A dimensional alternative to traditional nosologies. J Abnorm Psychol. 2017;126(4):454-477. doi:10.1037/abn0000258

Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape.

Vis DJ, Lewin J, Liao RG, et al. Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape. Ann Oncol. 2017;28(5):1145-1151. doi:10.1093/annonc/mdx037

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.

Schneider VA, Graves-Lindsay T, Howe K, et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 2017;27(5):849-864. doi:10.1101/gr.213611.116

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Cassa CA, Weghorn D, Balick DJ, et al. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017;49(5):806-810. doi:10.1038/ng.3831

Purine synthesis promotes maintenance of brain tumor initiating cells in glioma.

Wang X, Yang K, Xie Q, et al. Purine synthesis promotes maintenance of brain tumor initiating cells in glioma. Nat Neurosci. 2017;20(5):661-673. doi:10.1038/nn.4537

Genetic control of autophagy underlies pathogenesis of inflammatory bowel disease.

Lassen KG, Xavier RJ. Genetic control of autophagy underlies pathogenesis of inflammatory bowel disease. Mucosal Immunol. 2017;10(3):589-597. doi:10.1038/mi.2017.18

Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis.

Hill A, Loh PR, Bharadwaj RB, et al. Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis. Gigascience. 2017;6(5):1-10. doi:10.1093/gigascience/gix009