Comprehensive variant discovery in the era of complete human reference genomes
- Resource Type
- Article
- Authors
- Cechova, Monika; Miga, Karen H.
- Source
- Nature Methods; January 2023, Vol. 20 Issue: 1 p17-19, 3p
- Subject
- Language
- ISSN
- 15487091; 15487105
Advances in long-read sequencing technologies have broadened our understanding of genetic variation in the human population, uncovered new complex structural variants and offered an opportunity to elucidate new variant associations with disease.