Welcome to the August edition of our customer publications blog post! Each month we spotlight a few recently published articles by our incredible Golden Helix customers. With users spanning both research and clinical spaces, the topics vary widely across many fields. This month, we will be highlighting users of VSClinical’s guided workflow.
Our first paper, written by collaborators from the University Hospital Copenhagen, Aarhus University, and Rigshospitalet, explored Covid-19 associated multisystem inflammatory syndrome (MIS) and aimed to provide novel immunological and genetic descriptions of affected patients. By analyzing cytokine responses following SARS-CoV-2 infection, researchers observed an impaired production of type I and III interferons in response to infection. Additionally, researchers performed whole exome sequencing of patient data. Using VSClinical’s ACMG auto classifier revealed 12 rare and potentially disease-causing variants in genes that may contribute to MIS-A.
Ronit, A., Jørgensen, S., Roed, C., Eriksson, R., Iepsen, U., & Plovsing, R. et al. (2021). Host Genetics and Antiviral Immune Responses in Adult Patients With Multisystem Inflammatory Syndrome. Frontiers In Immunology, 12. https://doi.org/10.3389/fimmu.2021.718744
Scientists at the Dasman Center for the Research and Treatment of Diabetes, Farwaniya Hospital, and Kuwait University collaborated to investigate the genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY), a rare form of monogenic diabetes. Whole exome sequencing of patient DNA from members of suspected MODY families was analyzed using Golden Helix’s VSClinical suite to identify and classify causal variants. Pathogenic mutations confirmed MODY in 7 families, and novel variants were found in three families. This study provides the first data set on the genotype and phenotype of patients with suspected MODY in Kuwait. The National Reference Clinic at the Dasman Diabetes Institute plans to integrate MODY screening via genetic testing into the future National Diabetes Registry.
Al-Kandari, H., Al-Abdulrazzaq, D., Davidsson, L. et al. Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic. Sci Rep 11, 16060 (2021). https://doi.org/10.1038/s41598-021-95552-z
Researchers from the Department of Medical Genetics, the Department of Medicine, the division of Cardiology, and the Centre for Heart Lung Innovation at the University of British Columbia in Vancouver collaborated for this study published in the Canadian Journal of Cardiology. The objective of this study was to assess the prevalence of familial hypercholesterolemia (FH), familial combined hyperlipidemia (FCHL), and elevated lipoprotein(a) [Lp(a)] and their impact on management in patients with premature coronary artery disease (CAD). Golden Helix software, VSClinical, was utilized in the genetic screening for familial hypercholesterolemia. It was found that among patients with premature CAD, more than one in three patients have FG, FHCL, or elevated Lp(a), and assessments for such may provide information for individualized patient management, including the need for combination lipid-lowering and family-based cascade screening.
Vikulova, D., Trinder, M., Mancini, G., Pimstone, S., & Brunham, L. (2021). Familial Hypercholesterolemia, Familial Combined Hyperlipidemia and Elevated Lipoprotein(a) in Patients with Premature Coronary Artery Disease. Canadian Journal Of Cardiology. https://doi.org/10.1016/j.cjca.2021.08.012
Researchers in Maine from the Dahl-Chase Pathology Associates and the Northern Light Eastern Maine Medical Center analyzed lung adenocarcinomas (LUAD) from a geographically unique population of rural Maine by next-generation sequencing (NGS). They also set out to correlate mutational findings with clinical features, patient outcomes, and published data from other populations. Their analysis of oncogenes and tumor suppressor genes in LUAD showed a distribution of mutations in rural Maine similar to those reported from other regions of related ancestry. By utilizing NGS technology and VSClinical’s Cancer workflow, the molecular lung cancer landscapes continue to be mapped, and the researchers plan on future work in this space.
Skacel, L., Babcock, M., Harb, A., Curtis, A., Liou, C., & Brawn, K. et al. (2021). Lung Adenocarcinoma: Next Generation Sequencing and Outcome in Regional Community Oncology Setting. https://doi.org/10.21203/rs.3.rs-856354/v1
I hope you enjoyed this collection of featured publications. To find the complete list of publications citing Golden Helix products, please visit our Published Articles page on our website. Feel free to check out our other blog posts that contain important news and updates for the next-gen sequencing community. As always, if you have any questions about our software, feel welcome to reach out to firstname.lastname@example.org.