Day Five of Bionano’s Next-Generation Cytogenomics Symposium Saphyr Identifies Structural Variants that May Predispose to Severe COVID-19 Illness
COVID-19 Host Genome Structural Variant (SV) Consortium used Saphyr to identify SVs in severe COVID-19 patients that affect genes involved in immunity, airway mucous, and viral
SVs found by several investigators point to a central role for disease severity of the interferon response pathway
- Consortium has added investigators from Augusta University, Boston Children’s Hospital, New York Genome Center, Radboud University, Rockefeller University, UC San Diego, Virginia Commonwealth University, and two dozen other institutes from around the world
SAN DIEGO, Jan. 18, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that the last day of its five-day Next-Generation Cytogenomics Symposium featured presentations by
members of the COVID-19 Host Genome Structural Variant (SV) Consortium using the Saphyr system for optical genome mapping (OGM) to analyze the genomes of patients with severe COVID-19 disease.
The presentations by scientists and clinicians from leading hospitals and research institutions in Europe and the US showed that Saphyr was able to detect structural variants that may predispose to
severe or mild COVID-19 disease, which had not been identified previously by large studies using next-generation sequencing (NGS) or array-based methods to analyze genomic variation.
Dr. Alex Hoischen, Radboud University, discussed his published results on genomic variants found in families with severe COVID-19. In two families with severely ill brothers, mutations were found in the Toll Like Receptor 7 gene (TLR7), which affects the production of interferons, signaling molecules used to control the immune response. Several other studies have since made similar findings in other genes of the TLR family. Dr. Hoischen discussed how individual patients each may carry individually rare variants, that are collectively common and point to important pathways involved in the disease. His interest in the consortium is based on his understanding that larger SVs have a greater chance to be rare and disruptive, and genome-wide studies have lacked so far in their assessment.