Found: 4

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  • Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14049-5
    By:
    • Genovese, Giulio;
    • Mello, Curtis J.;
    • Loh, Po-Ru;
    • Handsaker, Robert E.;
    • Kashin, Seva;
    • Whelan, Christopher W.;
    • Bayer-Zwirello, Lucy A.;
    • McCarroll, Steven A.
    Publication type:
    Article

  • Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

    Published in:
    Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340
    By:
    • Usher, Christina L;
    • Pato, Carlos N;
    • Pato, Michele T;
    • McCarthy, Mark I;
    • Altshuler, David M;
    • Handsaker, Robert E;
    • McCarroll, Steven A;
    • Esko, Tõnu;
    • Tuke, Marcus A;
    • Weedon, Michael N;
    • Frayling, Timothy M;
    • Hastie, Alex R;
    • Cao, Han;
    • Moon, Jennifer E;
    • Hirschhorn, Joel N;
    • Kashin, Seva;
    • Fuchsberger, Christian;
    • Boehnke, Michael;
    • Metspalu, Andres
    Publication type:
    Article

  • Large multiallelic copy number variations in humans.

    Published in:
    Nature Genetics, 2015, v. 47, n. 3, p. 296, doi. 10.1038/ng.3200
    By:
    • Handsaker, Robert E;
    • Van Doren, Vanessa;
    • Genovese, Giulio;
    • Kashin, Seva;
    • McCarroll, Steven A;
    • Berman, Jennifer R;
    • Boettger, Linda M
    Publication type:
    Article

  • A vast resource of allelic expression data spanning human tissues.

    Published in:
    Genome Biology, 2020, v. 21, p. 1, doi. 10.1186/s13059-020-02122-z
    By:
    • Castel, Stephane E.;
    • Aguet, François;
    • Mohammadi, Pejman;
    • GTEx Consortium;
    • Anand, Shankara;
    • Ardlie, Kristin G.;
    • Gabriel, Stacey;
    • Getz, Gad A.;
    • Graubert, Aaron;
    • Hadley, Kane;
    • Handsaker, Robert E.;
    • Huang, Katherine H.;
    • Kashin, Seva;
    • Li, Xiao;
    • MacArthur, Daniel G.;
    • Meier, Samuel R.;
    • Nedzel, Jared L.;
    • Nguyen, Duyen T.;
    • Segrè, Ayellet V.;
    • Todres, Ellen
    Publication type:
    Article