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Linear assembly of a human centromere on the Y chromosome.

Authors :
Jain M
Olsen HE
Turner DJ
Stoddart D
Bulazel KV
Paten B
Haussler D
Willard HF
Akeson M
Miga KH
Source :
Nature biotechnology [Nat Biotechnol] 2018 Apr; Vol. 36 (4), pp. 321-323. Date of Electronic Publication: 2018 Mar 19.
Publication Year :
2018

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.

Details

Language :
English
ISSN :
1546-1696
Volume :
36
Issue :
4
Database :
MEDLINE
Journal :
Nature biotechnology
Publication Type :
Academic Journal
Accession number :
29553574
Full Text :
https://doi.org/10.1038/nbt.4109