Copy number variants (CNVs) are regions of the genome that are duplicated or deleted in some individuals, and are a common type of gene-disabling mutation. The human genome contains hundreds of thousands of CNVs, but typical genomic analysis approaches detect only the largest, and scientists aren’t sure what most of them do.
Now a team of researchers at the Broad Institute of MIT and Harvard, Brigham and Women’s Hospital, and Harvard Medical School has developed a computational method that detected 15 million CNVs in the UK Biobank — six times more than previous analyses of the same data. The researchers used their method to uncover hundreds of biological connections between these CNVs and dozens of human traits, revealing new links between specific genes and traits such as height, blood counts, and biological markers of health.
