Alex H Wagner, PhD

Dr. Wagner's current research focus is on methods, standards, and tools to support the clinical interpretation of genomic variants. As a medical informatics lab, his research focuses on standardizing the representation and annotation of genomic variation.

Publications

Dr. 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. Dr. Wagner 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, Dr. Wagner 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, Dr. 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, Dr. Wagner 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, Dr. Wagner 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.