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TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data
BACKGROUND: RNA-seq is a powerful and cost-effective technology for molecular diagnostics of cancer and other diseases, and it can reach its full potential when coupled with validated clinical-grade informatics tools. Despite recent advances in long-read sequencing, transcriptome assembly of short r...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131862/ https://www.ncbi.nlm.nih.gov/pubmed/30200994 http://dx.doi.org/10.1186/s12920-018-0402-6 |