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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Foilsithe in:BMC Bioinformatics
Main Authors: Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2018
Ábhair:
Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6266955/
https://ncbi.nlm.nih.gov/pubmed/30497360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2416-7
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