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

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

Abstract 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 test...

Full description

Bibliographic Details
Main Authors: Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, Ludovica Liguori, Maria Vittoria Cubellis, Bruno Hay Mele
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Bioinformatics
Subjects:
Rare disease
Clinical informatics
Variant analysis
Bioinformatics
Fabry disease
Online Access:http://link.springer.com/article/10.1186/s12859-018-2416-7

Internet

http://link.springer.com/article/10.1186/s12859-018-2416-7

Similar Items