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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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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
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author 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
author_facet 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
author_sort Holmes, Oliver
collection PubMed
description 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.
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spelling pubmed-97106772023-01-24 qmotif: determination of telomere content from whole-genome sequence data 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 Bioinform Adv Application Note 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. Oxford University Press 2022-01-31 /pmc/articles/PMC9710677/ /pubmed/36699384 http://dx.doi.org/10.1093/bioadv/vbac005 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Application Note
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
qmotif: determination of telomere content from whole-genome sequence data
title qmotif: determination of telomere content from whole-genome sequence data
title_full qmotif: determination of telomere content from whole-genome sequence data
title_fullStr qmotif: determination of telomere content from whole-genome sequence data
title_full_unstemmed qmotif: determination of telomere content from whole-genome sequence data
title_short qmotif: determination of telomere content from whole-genome sequence data
title_sort qmotif: determination of telomere content from whole-genome sequence data
topic Application Note
url 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
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