New research by the European Molecular Biology Laboratory has concluded that inversions in the human genome are more common than previously known.
Posted online in Cell. the authors examined a set of 40 recurrent inversions encompassing about less than 1 percent of the genome.
“Recurrent inversions exhibit a sex-chromosomal bias and co-localize with genomic disorder critical regions,” the authors described in their article.
“We propose that inversion recurrence results in an elevated number of heterozygous carriers and structural SD diversity, which increases mutability in the population and predisposes specific haplotypes to disease-causing copy number variants (CNVs).”
The study study was published May 6, 2022.