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TAPES: A tool for assessment and prioritisation in exome studies
Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In an effort to identify pathogenic variants, reject benign variants and better predict variant effects in downstream analys...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814239/ https://www.ncbi.nlm.nih.gov/pubmed/31613886 http://dx.doi.org/10.1371/journal.pcbi.1007453 |