Genome structural variation in human evolution.
Abstrak
Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and variation that does not change copy number of a genomic region, such as an inversion. Improved reference genomes, combined with widespread genome sequencing using short-read sequencing technology, and increasingly using long-read sequencing, have reignited interest in SV. Recent large-scale studies and functional focused analyses have highlighted the role of SV in human evolution. In this review, we highlight human-specific SVs involved in changes in the brain, population-specific SVs that affect response to the environment, including adaptation to diet and infectious diseases, and summarise the contribution of archaic hominin admixture to present-day human SV.
Topik & Kata Kunci
Penulis (3)
E. Hollox
L. Zuccherato
S. Tucci
Akses Cepat
- Tahun Terbit
- 2021
- Bahasa
- en
- Total Sitasi
- 65×
- Sumber Database
- Semantic Scholar
- DOI
- 10.1016/j.tig.2021.06.015
- Akses
- Open Access ✓