Mining the literature for clinically relevant variants

Variomes: a search engine to support the curation of genetic variants

Identifying clinically actionable genetic variants in patients is crucial to selecting appropriate treatment. For instance, by better targeting treatments. For this, clinicians rely on expertly curated knowledgebases. In this in silico talk SIB’s Anais Mottaz and Emilie Pasche present Variomes, a variant-specific search engine designed to support this curation work. Find out how this tool, developed in the group of Patrick Ruch, compares to others and the various ways users can submit queries. If you are a molecular biologist or biocurator interested in efficiently finding information on genomic variants from the literature, then this in silico talk is for you. 

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The in silico talks online series aims to inform bioinformaticians, life scientists and clinicians about the latest advances led by SIB Scientists on a wide range of topics in bioinformatics methods, research and resources. Stay abreast of the latest developments, get exclusive insights into recent papers, and discover how these advances might help you in your work or research, by subscribing to the in silico talks mailing list.

Speaker
Name:
Emilie Pasche and Anaïs Mottaz
Institute:
HEG Geneve
Group:

Emilie Pasche is a research scientist at the SIB and HEG Geneva (HES-SO). She is trained in Biology (Ba) and Bioinformatics (MSc and PhD). She obtained a PhD in Bioinformatics from the University of Geneva. Her research interests focus on designing text analytics instruments to support data curation. 

Anaïs Mottaz is a research scientist at the HEG Geneva (HES-SO). She has a background in the medical and bioinformatics domains with a Swiss Federal Diploma of Medicine and a master's degree & MD-PhD in bioinformatics. Her work in the domain of bioinformatics focuses on increasing accessibility to genetic variants in molecular databases and in the literature.

Video
Duration:
11 minutes 16 seconds
License:

This video is available under the creative commons license CC-BY-4.0

Reference(s)

Pasche E et al. Variomes: a high recall search engine to support the curation of genomic variants. Bioinformatics. 

DOI:
10.1093/bioinformatics/btac146

Pasche E et al. Assessing the use of supplementary materials to improve genomic variant discovery. Database. 

DOI:
10.1093/database/baad017/7098622