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The Regulatory Mendelian Mutation score for GRCh38
BACKGROUND: Genome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the noncoding genome and the clinical need for methods that prioritize potentially disease causal noncoding variants. Some tools for assessment of variant pathogenicity as well as a...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120424/ https://www.ncbi.nlm.nih.gov/pubmed/37083939 http://dx.doi.org/10.1093/gigascience/giad024 |