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Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases
BACKGROUND: Analysis of variants in distant regulatory elements could improve the current 25–50% yield of genetic testing for monogenic diseases. However, the vast size of the regulome, great number of variants, and the difficulty in predicting their phenotypic impact make searching for pathogenic v...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7978111/ https://www.ncbi.nlm.nih.gov/pubmed/33747049 http://dx.doi.org/10.3389/fgene.2021.638960 |