UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
Oxford Nanopore Technologies, Oxford, UK.
Nat Biotechnol. 2018 Apr;36(4):321-323. doi: 10.1038/nbt.4109. Epub 2018 Mar 19.
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.
由于在着丝粒中组装长片段近同源串联重复序列的挑战，人类基因组参考序列仍然不完整。我们实施了纳米孔测序策略，生成了跨越人类 Y 染色体着丝粒中数百千碱基高度重复 DNA 的高质量读数。通过将这些数据与短读变异验证相结合，我们组装并描述了人类 Y 染色体着丝粒区域。
