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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...

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Detalles Bibliográficos
Autores principales: Sztromwasser, Paweł, Skrzypczak, Damian, Michalak, Arkadiusz, Fendler, Wojciech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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