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Targeted genotyping of variable number tandem repeats with adVNTR
Whole-genome sequencing is increasingly used to identify Mendelian variants in clinical pipelines. These pipelines focus on single-nucleotide variants (SNVs) and also structural variants, while ignoring more complex repeat sequence variants. Here, we consider the problem of genotyping Variable Numbe...
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| Veröffentlicht in: | Genome Res |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6211647/ https://ncbi.nlm.nih.gov/pubmed/30352806 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.235119.118 |
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