1. Linear assembly of a human centromere on the Y chromosome.
- Author
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Jain M, Olsen HE, Turner DJ, Stoddart D, Bulazel KV, Paten B, Haussler D, Willard HF, Akeson M, and Miga KH
- Subjects
- Genome, Human genetics, Humans, Nanopores, Repetitive Sequences, Nucleic Acid genetics, Centromere genetics, Chromosomes, Human, Y genetics, High-Throughput Nucleotide Sequencing, Tandem Repeat Sequences genetics
- 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.
- Published
- 2018
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