作者
Kirill Grigorev, Jonathan Foox, Daniela Bezdan, Daniel Butler, Jared J Luxton, Jake Reed, Miles J McKenna, Lynn Taylor, Kerry A George, Cem Meydan, Susan M Bailey, Christopher E Mason
发表日期
2021/7/1
期刊
Genome research
卷号
31
期号
7
页码范围
1269-1279
出版商
Cold Spring Harbor Lab
简介
Telomeres are regions of repetitive nucleotide sequences capping the ends of eukaryotic chromosomes that protect against deterioration, and whose lengths can be correlated with age and adverse health risk factors. Yet, given their length and repetitive nature, telomeric regions are not easily reconstructed from short-read sequencing, thus making telomere sequencing, mapping, and variant resolution challenging problems. Recently, long-read sequencing, with read lengths measuring in hundreds of kilobase pairs, has made it possible to routinely read into telomeric regions and inspect their sequence structure. Here, we describe a framework for extracting telomeric reads from whole-genome single-molecule sequencing experiments, including de novo identification of telomere repeat motifs and repeat types, and also describe their sequence variation. We find that long, complex telomeric stretches and repeats …
引用总数
20202021202220232024137119
学术搜索中的文章
K Grigorev, J Foox, D Bezdan, D Butler, JJ Luxton… - Genome research, 2021