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TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data
BACKGROUND: Tandem repeat sequences are widespread in the human genome, and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully elucidate their roles in health and disease, but resolving tandem repeat variation accurately remains a challeng...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539535/ https://www.ncbi.nlm.nih.gov/pubmed/33034633 http://dx.doi.org/10.1093/gigascience/giaa101 |