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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
PURPOSE: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272326/ https://www.ncbi.nlm.nih.gov/pubmed/32123317 http://dx.doi.org/10.1038/s41436-020-0766-9 |