P733: Comparative analysis of DNA variant classifications between the GENCOV COVID-19 genome study and the ClinVar database
Year: 2024
Type: article
Abstract: DNA variant databases play a pivotal role in evaluating the clinical implications of DNA variations for disease diagnosis and treatment. However, these databases are often replete with both false positives and negatives, leading to potential misinterpretations and consequential impacts on patients and clinicians relying on this data for genetic testing. ClinVar, an expansive public database documenting genomic variations and their implications for human health, holds substantial significance in both medical research and clinical applications.
Source: Genetics in Medicine Open
Authors: Radhika Mahajan, Erika Frangione, Navneet Aujla, Selina Casalino, Lochana Jayachandran, Gregory Morgan, Juliet Young, Brendan Dickson, Saranya Arnoldo, Erin Bearss, Alexandra Binnie, Bjug Borgundvaag, Marc Clausen, Marc Dagher, Luke Devine, Steven Friedman, Anne-Claude Gingras, Zeeshan Khan, Tony Mazzulli, Shelley McLeod, Chloe Mighton, Trevor Pugh, Jared Simpson, Seth Stern, Lisa Strug, Ahmed Taher, Elena Greenfeld, Yvonne Bombard, Abdul Noor, Hanna Faghfoury, Jennifer Taher, Jordan Lerner-Ellis
Institutions: Mount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, William Osler Health System, Unity Health Toronto, Women's College Hospital, University Health Network, McKenzie Health, Ontario Institute for Cancer Research, Great Ormond Street Hospital, Hospital for Sick Children
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588701