Article (Scientific journals)
Variant Score Ranker - a web application for intuitive missense variant prioritization
Du, Juanjiangmeng; Sudarsanam, Monica; Pérez-Palma, Eduardo et al.
2019In Bioinformatics
Peer reviewed
 

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Keywords :
Variants; Missense; Human genetics
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
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  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Lal, Dennis
More authors (5 more) Less
External co-authors :
yes
Language :
English
Title :
Variant Score Ranker - a web application for intuitive missense variant prioritization
Publication date :
25 April 2019
Journal title :
Bioinformatics
ISSN :
1367-4803
eISSN :
1367-4811
Publisher :
Oxford University Press, Oxford, United Kingdom
Peer reviewed :
Peer reviewed
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 27 April 2019

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