VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

BACKGROUND: Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both for diagnostics and research purposes. Due to very rapid technological progress, NGS laboratories are expanding their capabilities to address the incr...

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Detalles Bibliográficos
Autores principales: Musacchia, F., Ciolfi, A., Mutarelli, M., Bruselles, A., Castello, R., Pinelli, M., Basu, S., Banfi, S., Casari, G., Tartaglia, M., Nigro, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291943/
https://www.ncbi.nlm.nih.gov/pubmed/30541431
http://dx.doi.org/10.1186/s12859-018-2532-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291943/
https://www.ncbi.nlm.nih.gov/pubmed/30541431
http://dx.doi.org/10.1186/s12859-018-2532-4

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