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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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| Publicat a: | Genome Res |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2018
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| Matèries: | |
| Accés en línia: | 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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