Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations

BACKGROUND: In the search for novel causal mutations, public and/or private variant databases are nearly always used to facilitate the search as they result in a massive reduction of putative variants in one step. Practically, variant filtering is often done by either using all variants from the var...

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Detalles Bibliográficos
Autores principales: Broeckx, Bart J. G., Peelman, Luc, Saunders, Jimmy H., Deforce, Dieter, Clement, Lieven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710091/
https://www.ncbi.nlm.nih.gov/pubmed/29191167
http://dx.doi.org/10.1186/s12859-017-1951-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710091/
https://www.ncbi.nlm.nih.gov/pubmed/29191167
http://dx.doi.org/10.1186/s12859-017-1951-y

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