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A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing
Dramatically expanding our ability for clinical genetic testing for inherited conditions and complex diseases such as cancer, next generation sequencing (NGS) technologies are allowing for rapid interrogation of thousands of genes and identification of millions of variants. Variant annotation, the p...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577137/ https://www.ncbi.nlm.nih.gov/pubmed/36268089 http://dx.doi.org/10.1016/j.jpi.2022.100130 |