Publications

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Author [ Title(Desc)] Year
Filters: Keyword is Humans and Author is Hall, Ira M  [Clear All Filters]
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A
Chen, L. et al. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
F
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).
H
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
I
Chiang, C. et al. The impact of structural variation on human gene expression. Nat Genet 49, 692-699 (2017).
M
Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
S
Ganel, L., Abel, H. J. & Hall, I. M. SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).