Linear assembly of a human centromere on the Y chromosome.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 29553574.
- Also identified by DOI 10.1038/nbt.4109 and PMC identifier 5886786.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
The human genome reference sequence remains incomplete owing to the challenge of assembling long tracts of near-identical tandem repeats in centromeres. We implemented a nanopore sequencing strategy to generate high-quality reads that span hundreds of kilobases of highly repetitive DNA in a human Y chromosome centromere. Combining these data with short-read variant validation, we assembled and characterized the centromeric region of a human Y chromosome.
Medical subject headings
- Centromere
- Chromosomes, Human, Y
- High-Throughput Nucleotide Sequencing
- Tandem Repeat Sequences