Improving Genomic Analysis by Fixing Reference Errors

Explore a 33-minute webinar presented by Dr. Sairam Behera, a post-doctoral research fellow at Baylor College of Medicine, focusing on improving genomic analysis through the correction of reference errors. Learn about the current version of the human reference genome, GRCh38, and its inherent errors, including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. Discover how these errors impact variant calling in 33 protein-coding genes, with 12 having medical relevance. Gain insights into a modified GRCh38 reference that corrects these errors while maintaining existing coordinates and annotations. Understand the efficient remapping approach, FixItFelix, which enables quick re-analysis of existing data for improved insights. Examine the improvements demonstrated across multi-ethnic control samples using short and long-read DNA and RNA sequencing, showcasing enhancements in population variant calling and eQTL studies. Earn PACE credits by watching the webinar and following the provided instructions. Connect with Labroots on various social media platforms for more scientific content and updates.