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Article

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

1 Nov 2018

Abstract excerpt

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 these scores correlate with disease severity. RESULTS: wANNOVAR, a popular tool that can generate several different...

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PMID: 30497360
DOI: 10.1186/s12859-018-2416-7

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