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TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data

BACKGROUND: Tandem repeat sequences are widespread in the human genome, and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully elucidate their roles in health and disease, but resolving tandem repeat variation accurately remains a challeng...

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Detalles Bibliográficos
Autores principales: Bolognini, Davide, Magi, Alberto, Benes, Vladimir, Korbel, Jan O, Rausch, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539535/
https://www.ncbi.nlm.nih.gov/pubmed/33034633
http://dx.doi.org/10.1093/gigascience/giaa101