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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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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Broeckx, Bart J. G., Peelman, Luc, Saunders, Jimmy H., Deforce, Dieter, Clement, Lieven
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5710091/
https://ncbi.nlm.nih.gov/pubmed/29191167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-017-1951-y
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