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RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions
The popularisation and decreased cost of genome resequencing has resulted in an increased use in molecular diagnostics. While there are a number of established and high quality bioinfomatic tools for identifying small genetic variants including single nucleotide variants and indels, currently there...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858463/ https://www.ncbi.nlm.nih.gov/pubmed/31729446 http://dx.doi.org/10.1038/s41598-019-53181-7 |