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

Abstract 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 reg...

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Principais autores: Mark T. W. Ebbert, Tanner D. Jensen, Karen Jansen-West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Veronique Belzil, Luc Pregent, Minerva M. Carrasquillo, Dirk Keene, Eric Larson, Paul Crane, Yan W. Asmann, Nilufer Ertekin-Taner, Steven G. Younkin, Owen A. Ross, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2019-05-01
coleção:Genome Biology
Assuntos:
Camouflaged genes
Dark genes
Long-read sequencing
Pacific Biosciences (PacBio)
Oxford Nanopore Technologies (ONT)
10x Genomics
Acesso em linha:http://link.springer.com/article/10.1186/s13059-019-1707-2
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