Comprehensive variant discovery in the era of complete human reference genomes.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 36635553.
- Also identified by DOI 10.1038/s41592-022-01740-8 and PMC identifier 10506630.
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Abstract
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.
Medical subject headings
- Genome, Human
- Genetic Variation