Reference : Variant Score Ranker - a web application for intuitive missense variant prioritization
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/39404
Variant Score Ranker - a web application for intuitive missense variant prioritization
English
Du, Juanjiangmeng []
Sudarsanam, Monica []
Pérez-Palma, Eduardo []
Ganna, Andrea []
Francioli, Laurent []
Iqbal, Sumaiya []
Niestroj, Lisa-Marie []
Leu, Costin []
Weisburd, Ben []
Poterba, Ben []
Nürnberg, Peter []
Daly, Mark J. []
Palotie, Aarno []
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Lal, Dennis []
25-Apr-2019
Bioinformatics
Oxford University Press
Yes (verified by ORBilu)
International
1367-4803
1367-4811
Oxford
United Kingdom
[en] Variants ; Missense ; Human genetics
[en] The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level. Here, we present a web-application, Variant Score Ranker, which enables users to rapidly annotate variants and perform gene-specific variant score ranking on the population level. We also provide an intuitive example of how gene- and population-calibrated variant ranking scores can improve epilepsy variant prioritization.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Researchers ; Professionals
http://hdl.handle.net/10993/39404
10.1093/bioinformatics/btz252
https://academic.oup.com/bioinformatics/advance-article-abstract/doi/10.1093/bioinformatics/btz252/5480132?redirectedFrom=fulltext

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