Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering ex...

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Detalles Bibliográficos
Autores principales: Sifrim, Alejandro, Van Houdt, Jeroen KJ, Tranchevent, Leon-Charles, Nowakowska, Beata, Sakai, Ryo, Pavlopoulos, Georgios A, Devriendt, Koen, Vermeesch, Joris R, Moreau, Yves, Aerts, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580443/
https://www.ncbi.nlm.nih.gov/pubmed/23013645
http://dx.doi.org/10.1186/gm374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580443/
https://www.ncbi.nlm.nih.gov/pubmed/23013645
http://dx.doi.org/10.1186/gm374

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