STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Abstract Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and...
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| Principais autores: | , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMC
2025-03-01
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| Serier: | Genome Medicine |
| Online adgang: | https://doi.org/10.1186/s13073-025-01454-4 |
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