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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