Flip-flop genomics: Charting inversions in the human population

Cell. 2022 May 26;185(11):1811-1813. doi: 10.1016/j.cell.2022.05.002.

Abstract

Detecting large genomic inversions has long been challenging. In a new study, Porubsky et al. resolve these complex rearrangements in 41 individuals and discover wide regions that undergo recurrent inversions, some of which even toggle back and forth (Porubsky et al., 2022). Many of these regions are associated with genomic disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Rearrangement*
  • Genomics*
  • Humans