Nature Communications (Jul 2021)

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

  • Tsung-Yu Lu,
  • The Human Genome Structural Variation Consortium,
  • Mark J. P. Chaisson

DOI
https://doi.org/10.1038/s41467-021-24378-0
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 12

Abstract

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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.