Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

BACKGROUND: Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions, but also numerical scores. It has never been tested if th...

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Detalles Bibliográficos
Autores principales: Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266955/
https://www.ncbi.nlm.nih.gov/pubmed/30497360
http://dx.doi.org/10.1186/s12859-018-2416-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266955/
https://www.ncbi.nlm.nih.gov/pubmed/30497360
http://dx.doi.org/10.1186/s12859-018-2416-7

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