Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Genetics, Population  [Clear All Filters]
2020
Brasó-Vives, M. et al. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
Weissensteiner, M. H. et al. Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Biddanda, A., Rice, D. P. & Novembre, J. A variant-centric perspective on geographic patterns of human allele frequency variation. Elife 9, (2020).
2017
Chen, J., Wang, B., Regan, L. & Gerstein, M. Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. J Mol Biol 429, 435-445 (2017).
2016
Scott, E. M. et al. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
Staples, J. et al. PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes. Bioinformatics 32, 596-8 (2016).
2014
Staples, J. et al. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet 95, 553-64 (2014).
2011
Lupski, J. R., Belmont, J. W., Boerwinkle, E. & Gibbs, R. A. Clan genomics and the complex architecture of human disease. Cell 147, 32-43 (2011).