Linear assembly of a human centromere on the Y chromosome

Repeat regions in the human Y chromosome centromere are assembled using long-read nanopore sequencing. 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 strateg...

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Bibliographic Details
Published in:Nature biotechnology 2018-04, Vol.36 (4), p.321-323
Main Authors: Jain, Miten, Olsen, Hugh E, Turner, Daniel J, Stoddart, David, Bulazel, Kira V, Paten, Benedict, Haussler, David, Willard, Huntington F, Akeson, Mark, Miga, Karen H
Format: Article
Language:English
Subjects:
45/23
49/15
49/22
631/1647/514/1948
631/208/726
631/337/103/90
631/61/212
Agriculture
Assembling
Bioinformatics
Biomedical Engineering/Biotechnology
Biomedicine
Biotechnology
brief-communication
Centromere - genetics
Centromeres
Chromosomes
Chromosomes, Human, Y - genetics
Deoxyribonucleic acid
DNA
DNA sequencing
Genome, Human - genetics
Genomes
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Methods
Nanopores
Nucleotide sequence
Physiological aspects
Porosity
Repetitive Sequences, Nucleic Acid - genetics
Tandem Repeat Sequences - genetics
Y chromosomes
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Description
Summary:Repeat regions in the human Y chromosome centromere are assembled using long-read nanopore sequencing. 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.
ISSN:1087-0156
1546-1696
1546-1696
DOI:10.1038/nbt.4109