Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Whole Genome Sequencing  [Clear All Filters]
2021
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
2020
Bick, A. G. et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 586, 763-768 (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).
2018
Sanghvi, R. V. et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Regier, A. A. et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun 9, 4038 (2018).
Li, C. et al. Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population. Hum Genet 137, 85-94 (2018).