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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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 |