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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
BACKGROUND: To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3000 known Mendelian genes. This assay, which we term the Mende...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499193/ https://www.ncbi.nlm.nih.gov/pubmed/26112015 http://dx.doi.org/10.1186/s13059-015-0693-2 |