Du, Juanjiangmeng, Sudarsanam, Monica, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Ganna, Andrea ORCID: 0000-0002-8147-240X, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nuernberg, Peter, Daly, Mark J., Palotie, Aarno, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2019). Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics, 35 (21). S. 4478 - 4480. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2059

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Du, JuanjiangmengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sudarsanam, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perez-Palma, EduardoUNSPECIFIEDorcid.org/0000-0003-0546-5141UNSPECIFIED
Ganna, AndreaUNSPECIFIEDorcid.org/0000-0002-8147-240XUNSPECIFIED
Francioli, LaurentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Iqbal, SumaiyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Niestroj, Lisa-MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leu, CostinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weisburd, BenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poterba, TimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Daly, Mark J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palotie, AarnoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
May, PatrickUNSPECIFIEDorcid.org/0000-0001-8698-3770UNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-128978
DOI: 10.1093/bioinformatics/btz252
Journal or Publication Title: Bioinformatics
Volume: 35
Number: 21
Page Range: S. 4478 - 4480
Date: 2019
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2059
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DATABASEMultiple languages
Biochemical Research Methods; Biotechnology & Applied Microbiology; Computer Science, Interdisciplinary Applications; Mathematical & Computational Biology; Statistics & ProbabilityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/12897

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