GHGA Lecture Series: Alex Wagner (virtual)
- 16 Jul 2025
Alex Wagner from the Nationwide Children's Hospital (Columbus, USA) will talk about "The Variation Representation Specification (VRS) - enabling consistent variant exchange" at the GHGA lecture series "Advances in Data-Driven Biomedicine" on July 16, 2025.
Register here!
Abstract:
The Variation Representation Specification (VRS) is an open-source standard developed by the Global Alliance for Genomic Health (GA4GH) to facilitate the exchange and sharing of genetic variation data. It provides a framework for representing genetic variations in a way that is both human-readable and machine-interpretable, enabling more precise and consistent communication of genetic information between different systems and organizations.
The Specification consists of a JSON Schema for representing many classes of genetic variation, conventions to maximize the utility of the schema, and a Python implementation that promotes adoption of the standard.
Biography:
Alex Wagner is an Assistant Professor at the Institute for Genomic Medicine (IGM), where he leads the development of tools and standards for advancing precision medicine and our knowledge of genomic alterations in cancers. Alex serves as PI of a prestigious K99/R00 grant from the National Human Genome Research Institute to support this ongoing work. As a member of the Institute for Genomic Medicine, Alex is applying his research to drive rapid analysis of patient genomes, translating genetic alterations in children with cancers and other rare genetic disorders into clinical action. He is also a strong advocate for open science resources and initiatives. To that end, Alex Wagner holds key roles in open genomic knowledge standards organizations, serving both as director of the international Variant Interpretation for Cancer Consortium (VICC; cancervariants.org) and co-leader of the Variant Representation group of the Global Alliance for Genomics and Health (ga4gh.org). He is also an active contributor to the ClinGen Somatic Working Group and the American Society of Hematology Somatic Working Group.
In his postdoctoral work, Alex co-developed several precision medicine web tools, including the popular Drug-Gene Interaction Database (www.dgidb.org), the database of Clinical Interpretations of Variants in Cancer (CIViC; www.civicdb.org), and the VICC meta-knowledgebase (search.cancervariants.org). He is also a lead developer of the GA4GH Variation Representation specification, a computational framework for precisely representing and sharing variation across systems (vr-spec.readthedocs.io). During this period, Alex was also awarded an NRSA Postdoctoral Fellowship (F32) from the National Cancer Institute to lead the integrative analysis of tumor sequencing data from a relapsed small cell lung cancer cohort. His work demonstrated WNT signaling activation as a recurrent mechanism of acquired chemoresistance in this aggressive tumor type.