Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Disease  [Clear All Filters]
2014
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Wang, G. T., Li, B., Santos-Cortez, R. P. Lyn, Peng, B. & Leal, S. M. Power analysis and sample size estimation for sequence-based association studies. Bioinformatics 30, 2377-8 (2014).
2015
Zhang, F. & Lupski, J. R. Non-coding genetic variants in human disease. Hum Mol Genet 24, R102-10 (2015).
2016
Scott, E. M. et al. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
James, R. A. et al. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med 8, 13 (2016).
2020
The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318-1330 (2020).
Oliva, M. et al. The impact of sex on gene expression across human tissues. Science 369, (2020).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).