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A phenotype centric benchmark of variant prioritisation tools
Next generation sequencing is a standard tool used in clinical diagnostics. In Mendelian diseases the challenge is to discover the single etiological variant among thousands of benign or functionally unrelated variants. After calling variants from aligned sequencing reads, variant prioritisation too...
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| Pubblicato in: | NPJ Genom Med |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5799157/ https://ncbi.nlm.nih.gov/pubmed/29423277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0044-9 |
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