Name
Title | ||
|---|---|---|
Variant Score Ranker-a web application for intuitive missense variant prioritization. |
Abstract | ||
|---|---|---|
Motivation: 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. Results: 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. |
Year | DOI | Venue |
|---|---|---|
2019 | 10.1093/bioinformatics/btz252 | BIOINFORMATICS |
Field | DocType | Volume |
Missense mutation,Human genetics,Data mining,Information retrieval,Computer science,Prioritization,Web application | Journal | 35 |
Issue | ISSN | Citations |
21 | 1367-4803 | 0 |
PageRank | References | Authors |
0.34 | 0 | 15 |
Name | Order | Citations | PageRank |
|---|---|---|---|
| Juanjiangmeng Du | 1 | 0 | 0.34 |
| Monica Sudarsanam | 2 | 0 | 0.34 |
| Eduardo Pérez-Palma | 3 | 0 | 0.68 |
| Andrea Ganna | 4 | 1 | 0.73 |
| Laurent Francioli | 5 | 0 | 0.68 |
| Sumaiya Iqbal | 6 | 25 | 4.66 |
| Lisa-Marie Niestroj | 7 | 0 | 0.34 |
| Costin Leu | 8 | 0 | 0.34 |
| Ben Weisburd | 9 | 0 | 0.68 |
| Tim Poterba | 10 | 0 | 0.34 |
| Peter Nürnberg | 11 | 24 | 4.99 |
| Mark Daly | 12 | 190 | 33.59 |
| Aarno Palotie | 13 | 0 | 1.01 |
| Patrick May | 14 | 10 | 2.31 |
| Dennis Lal | 15 | 0 | 1.01 |