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Seave: a comprehensive web platform for storing and interrogating human genomic variation

MOTIVATION: Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant interpretation remains the major bottleneck. Understanding the potential impact of variants, including structural variants, requires extensive annotation from di...

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Detalles Bibliográficos
Autores principales: Gayevskiy, Velimir, Roscioli, Tony, Dinger, Marcel E, Cowley, Mark J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298057/
https://www.ncbi.nlm.nih.gov/pubmed/30561546
http://dx.doi.org/10.1093/bioinformatics/bty540