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Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants
BACKGROUND: Next-generation sequencing (NGS) is an efficient tool used for identifying pathogenic variants that cause Mendelian disorders. However, the lack of bioinformatics training of researchers makes the interpretation of identified variants a challenge in terms of precision and efficiency. In...
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| Publicado en: | BMC Genomics |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2021
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8173893/ https://ncbi.nlm.nih.gov/pubmed/34082700 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-021-07728-6 |
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