Low Mappability Genes in the Human Genome - Challenges and Opportunities

Explore the challenges and opportunities presented by low mappability genes in the human genome through this 28-minute conference talk from the Computational Genomics Summer Institute. Delve into the complexities of analyzing genomic regions that are difficult to map due to repetitive sequences, structural variations, and paralogous regions. Examine how these challenging genomic areas impact RNA-seq quantification, variant discovery, and clinical genomics applications. Learn about the diversity of human copy number variation and multicopy genes, and understand how errors in quantification of these regions affect genes relevant to human disease. Discover systematic approaches for analyzing paralogous regions in large-scale exome datasets and their clinical implications. Investigate the "dark-side" of the genome that presents barriers to human disease variant discovery, while exploring emerging methodologies and computational strategies to overcome these technical limitations in genomics research and clinical applications.