{"title":"从全基因组长读测序数据估计端粒长度的方法","authors":"Linh Nguyen, Jae Young Choi","doi":"10.1186/s13059-025-03783-4","DOIUrl":null,"url":null,"abstract":"Telomeres protect chromosome ends and their length varies significantly between organisms. Because telomere length variation is associated with various biomedical and eco-evolutionary phenotypes, many biological fields are interested in understanding its biological significance. Here, we introduce Topsicle, a computational method that estimates telomere length from whole genome long-read sequencing data using k-mer and change-point detection analysis. Simulations show Topsicle is robust to sequencing errors and coverage. Application of Topsicle to plant and human cancer cells shows high accuracy and comparable results to direct telomere length measurements. We predict Topsicle will be a useful tool for studying telomere biology.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"2 1","pages":""},"PeriodicalIF":10.1000,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Topsicle: a method for estimating telomere length from whole genome long-read sequencing data\",\"authors\":\"Linh Nguyen, Jae Young Choi\",\"doi\":\"10.1186/s13059-025-03783-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Telomeres protect chromosome ends and their length varies significantly between organisms. Because telomere length variation is associated with various biomedical and eco-evolutionary phenotypes, many biological fields are interested in understanding its biological significance. Here, we introduce Topsicle, a computational method that estimates telomere length from whole genome long-read sequencing data using k-mer and change-point detection analysis. Simulations show Topsicle is robust to sequencing errors and coverage. Application of Topsicle to plant and human cancer cells shows high accuracy and comparable results to direct telomere length measurements. We predict Topsicle will be a useful tool for studying telomere biology.\",\"PeriodicalId\":12611,\"journal\":{\"name\":\"Genome Biology\",\"volume\":\"2 1\",\"pages\":\"\"},\"PeriodicalIF\":10.1000,\"publicationDate\":\"2025-09-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genome Biology\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1186/s13059-025-03783-4\",\"RegionNum\":1,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genome Biology","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1186/s13059-025-03783-4","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Topsicle: a method for estimating telomere length from whole genome long-read sequencing data
Telomeres protect chromosome ends and their length varies significantly between organisms. Because telomere length variation is associated with various biomedical and eco-evolutionary phenotypes, many biological fields are interested in understanding its biological significance. Here, we introduce Topsicle, a computational method that estimates telomere length from whole genome long-read sequencing data using k-mer and change-point detection analysis. Simulations show Topsicle is robust to sequencing errors and coverage. Application of Topsicle to plant and human cancer cells shows high accuracy and comparable results to direct telomere length measurements. We predict Topsicle will be a useful tool for studying telomere biology.
Genome BiologyBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
21.00
自引率
3.30%
发文量
241
审稿时长
2 months
期刊介绍:
Genome Biology stands as a premier platform for exceptional research across all domains of biology and biomedicine, explored through a genomic and post-genomic lens.
With an impressive impact factor of 12.3 (2022),* the journal secures its position as the 3rd-ranked research journal in the Genetics and Heredity category and the 2nd-ranked research journal in the Biotechnology and Applied Microbiology category by Thomson Reuters. Notably, Genome Biology holds the distinction of being the highest-ranked open-access journal in this category.
Our dedicated team of highly trained in-house Editors collaborates closely with our esteemed Editorial Board of international experts, ensuring the journal remains on the forefront of scientific advances and community standards. Regular engagement with researchers at conferences and institute visits underscores our commitment to staying abreast of the latest developments in the field.