Flip-flop genomics: Charting inversions in the human population

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 ar...

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Bibliographic Details
Published in:Cell 2022-05, Vol.185 (11), p.1811-1813
Main Authors: Lanciano, Sophie, Cristofari, Gael
Format: Article
Language:English
Subjects:
Biochemistry, Molecular Biology
Gene Rearrangement
Genomics
Human health and pathology
Humans
Life Sciences
Molecular biology
Quantitative Methods
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Summary: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. 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.
ISSN:0092-8674
1097-4172
DOI:10.1016/j.cell.2022.05.002