Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.

ABSTRACT: 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 inversions <2 kbp form by twin-priming during L1 retrotransposition; 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^-4 per locus per generation. Recurre

SUBMITTER: Porubsky D 

PROVIDER: S-EPMC9563103 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature