Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

BACKGROUND: The human genome contains “dark” gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that may be relevant to human disease. Here, we identify regions wit...

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Detalles Bibliográficos
Autores principales: Ebbert, Mark T. W., Jensen, Tanner D., Jansen-West, Karen, Sens, Jonathon P., Reddy, Joseph S., Ridge, Perry G., Kauwe, John S. K., Belzil, Veronique, Pregent, Luc, Carrasquillo, Minerva M., Keene, Dirk, Larson, Eric, Crane, Paul, Asmann, Yan W., Ertekin-Taner, Nilufer, Younkin, Steven G., Ross, Owen A., Rademakers, Rosa, Petrucelli, Leonard, Fryer, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6526621/
https://www.ncbi.nlm.nih.gov/pubmed/31104630
http://dx.doi.org/10.1186/s13059-019-1707-2

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