Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs

Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph. This method will help elucidate the contribution of VNTRs to diversity and disease.

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Autores principales: Tsung-Yu Lu, The Human Genome Structural Variation Consortium, Mark J. P. Chaisson
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/a62e10329da24fef97c378d11249445d
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spelling oai:doaj.org-article:a62e10329da24fef97c378d11249445d2021-12-02T17:01:15ZProfiling variable-number tandem repeat variation across populations using repeat-pangenome graphs10.1038/s41467-021-24378-02041-1723https://doaj.org/article/a62e10329da24fef97c378d11249445d2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24378-0https://doaj.org/toc/2041-1723Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph. This method will help elucidate the contribution of VNTRs to diversity and disease.Tsung-Yu LuThe Human Genome Structural Variation ConsortiumMark J. P. ChaissonNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Tsung-Yu Lu
The Human Genome Structural Variation Consortium
Mark J. P. Chaisson
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
description Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph. This method will help elucidate the contribution of VNTRs to diversity and disease.
format article
author Tsung-Yu Lu
The Human Genome Structural Variation Consortium
Mark J. P. Chaisson
author_facet Tsung-Yu Lu
The Human Genome Structural Variation Consortium
Mark J. P. Chaisson
author_sort Tsung-Yu Lu
title Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
title_short Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
title_full Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
title_fullStr Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
title_full_unstemmed Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
title_sort profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/a62e10329da24fef97c378d11249445d
work_keys_str_mv AT tsungyulu profilingvariablenumbertandemrepeatvariationacrosspopulationsusingrepeatpangenomegraphs
AT thehumangenomestructuralvariationconsortium profilingvariablenumbertandemrepeatvariationacrosspopulationsusingrepeatpangenomegraphs
AT markjpchaisson profilingvariablenumbertandemrepeatvariationacrosspopulationsusingrepeatpangenomegraphs
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