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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:BMC Bioinformatics
Hauptverfasser: Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Research
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge