nstd169 (Giner-Delgado et al. 2019)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Mario Caceres
- Description:
- Inversions are structural variants that are difficult to detect. We studied 45 common human inversions of 0.1-415 kb in 551 individuals of 7 populations with a new high-throughput genotyping method based on probe hybridization and inverse PCR. We found that most inversions promoted by homologous recombination occur recurrently in humans and great apes and are not tagged by SNPs. Also, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects like gene disruption or gene-expression changes, or association with phenotypic traits. Thus, our results indicate that human inversions have important functional and evolutionary consequences. See Variant Summary counts for nstd169 in dbVar Variant Summary.
- Project:
- PRJNA531903
- Publication(s):
- Giner-Delgado et al. 2019