JGM, Chromosome Inversion, DNA Copy Number Variations, Genome, Human, Genomics, Humans, Segmental Duplications, Genomic
Cell 2022 May 26; 185(11):1986-2005.e26
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversionsretrotransposition; 80% of the larger inversions are balanced and affect twice as many nucleotides as CNVs. Balanced inversions show an excess of common variants, and 72% are flanked by segmental duplications (SDs) or retrotransposons. Since flanking repeats promote non-allelic homologous recombination, we developed complementary approaches to identify recurrent inversion formation. We describe 40 recurrent inversions encompassing 0.6% of the genome, showing inversion rates up to 2.7 × 10
Porubsky, David; Höps, Wolfram; Ashraf, Hufsah; Hsieh, PingHsun; Rodriguez-Martin, Bernardo; Yilmaz, Feyza; Ebler, Jana; Hallast, Pille; Maria Maggiolini, Flavia Angela; Harvey, William T; Henning, Barbara; Audano, Peter A; Gordon, David S; Ebert, Peter; Hasenfeld, Patrick; Benito, Eva; Zhu, Qihui; Lee, Charles; Antonacci, Francesca; Steinrücken, Matthias; Beck, Christine R; Sanders, Ashley D; Marschall, Tobias; Eichler, Evan E; and Korbel, Jan O, "Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders." (2022). Faculty Research 2022. 87.