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...

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Detalles Bibliográficos
Autores principales: Venselaar, Hanka, Camilli, Franscesca, Gholizadeh, Shima, Snelleman, Marlou, Brunner, Han G, Vriend, Gert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
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

Internet

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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