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VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Lemaçon, A 
Joly Beauparlant, C 
Soucy, P 

Abstract

Motivation: The identification of the functional variants responsible for observed genome-wide association studies (GWAS) signals is one of the most challenging tasks of the post-GWAS research era. Several tools have been developed to annotate genetic variants by their genomic location and potential functional implications. Each of these tools has its own requirements and internal logic, which forces the user to become acquainted with each interface.

Results: From an awareness of the amount of work needed to analyze a single locus, we have built a flexible, versatile and easy-to-use web interface designed to help in prioritizing variants and predicting their potential functional implications. This interface acts as a single-point of entry linking association results with reference tools and relevant experiments.

Description

Keywords

Genome, Human, Genome-Wide Association Study, Genomics, Humans, Polymorphism, Genetic, Sequence Analysis, DNA, Software

Journal Title

Bioinformatics

Conference Name

Journal ISSN

1367-4803
1367-4811

Volume Title

Publisher

Oxford University Press
Sponsorship
The PERSPECTIVE project was supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH-129344), the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the Quebec Breast Cancer Foundation.