Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
oleh: Tsung-Yu Lu, The Human Genome Structural Variation Consortium, Mark J. P. Chaisson
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2021-07-01 |
Deskripsi
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.