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qmotif: determination of telomere content from whole-genome sequence data

MOTIVATION: Changes in telomere length have been observed in cancer and can be indicative of mechanisms involved in carcinogenesis. Most methods used to estimate telomere length require laboratory analysis of DNA samples. Here, we present qmotif, a fast and easy tool that determines telomeric repeat...

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Detalles Bibliográficos
Autores principales: Holmes, Oliver, Nones, Katia, Tang, Yue Hang, Loffler, Kelly A, Lee, Michael, Patch, Ann-Marie, Dagg, Rebecca A, Lau, Loretta M S, Leonard, Conrad, Wood, Scott, Xu, Qinying, Pickett, Hilda A, Reddel, Roger R, Barbour, Andrew P, Grimmond, Sean M, Waddell, Nicola, Pearson, John V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710677/
https://www.ncbi.nlm.nih.gov/pubmed/36699384
http://dx.doi.org/10.1093/bioadv/vbac005
Descripción
Sumario:MOTIVATION: Changes in telomere length have been observed in cancer and can be indicative of mechanisms involved in carcinogenesis. Most methods used to estimate telomere length require laboratory analysis of DNA samples. Here, we present qmotif, a fast and easy tool that determines telomeric repeat sequences content as an estimate of telomere length directly from whole-genome sequencing. RESULTS: qmotif shows similar results to quantitative PCR, the standard method for high-throughput clinical telomere length quantification. qmotif output correlates strongly with the output of other tools for determining telomere sequence content, TelSeq and TelomereHunter, but can run in a fraction of the time—usually under a minute. AVAILABILITY AND IMPLEMENTATION: qmotif is implemented in Java and source code is available at https://github.com/AdamaJava/adamajava, with instructions on how to build and use the application available from https://adamajava.readthedocs.io/en/latest/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics Advances online.