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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...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Venselaar, Hanka, Camilli, Franscesca, Gholizadeh, Shima, Snelleman, Marlou, Brunner, Han G, Vriend, Gert
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4234487/
https://ncbi.nlm.nih.gov/pubmed/24305467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-14-352
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