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Available resources and challenges for the clinical annotation of somatic variations
Next-generation sequencing (NGS) has become an important tool for identifying clinically relevant variants in both inherited disorders and oncology. Variants annotation that enables the creation of meaningful clinical reports often requires mining multiple publicly available databases. There are a n...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BlackWell Publishing Ltd
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231254/ https://www.ncbi.nlm.nih.gov/pubmed/25111663 http://dx.doi.org/10.1002/cncy.21471 |