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Status quo of annotation of human disease variants
BACKGROUND: The ever on-going technical developments in Next Generation Sequencing have led to an increase in detected disease related mutations. Many bioinformatics approaches exist to analyse these variants, and of those the methods that use 3D structure information generally outperform those that...
Autores principales: | Venselaar, Hanka, Camilli, Franscesca, Gholizadeh, Shima, Snelleman, Marlou, Brunner, Han G, Vriend, Gert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234487/ https://www.ncbi.nlm.nih.gov/pubmed/24305467 http://dx.doi.org/10.1186/1471-2105-14-352 |
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