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  1. No Access

    Article

    Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels

    Steven McCarroll and colleagues present a detailed study of copy number variation of exons within the human HP (haptoglobin) gene. They show that HP exons undergo recurring deletions that, together with local SNP...

    Linda M Boettger, Rany M Salem, Robert E Handsaker, Gina M Peloso… in Nature Genetics (2016)

  2. No Access

    Article

    Large multiallelic copy number variations in humans

    Steven McCarroll and colleagues report an analysis of multiallelic copy number variants (mCNVs). They characterize mCNVs in 849 whole-genome sequences from the 1000 Genomes Project and find that mCNVs give ris...

    Robert E Handsaker, Vanessa Van Doren, Jennifer R Berman… in Nature Genetics (2015)

  3. No Access

    Article

    Structural haplotypes and recent evolution of the human 17q21.31 region

    Steven McCarroll and colleagues use a population genetics approach to identify nine different structural forms of the 17q21.31 inversion region. They show that duplications have arisen independently on both an...

    Linda M Boettger, Robert E Handsaker, Michael C Zody, Steven A McCarroll in Nature Genetics (2012)