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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Nature Portfolio
2021
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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) |
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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 |
_version_ |
1718382228370620416 |