Detection of Genetic Variation in Highly Homologous Genes Using Short Read Sequencing

Explore the challenges and solutions for detecting genetic variations in highly homologous genes using short read sequencing in this 30-minute conference talk by Vikas Bansal at the Computational Genomics Summer Institute (CGSI) 2024. Delve into advanced techniques for navigating complex genomic regions, focusing on low-copy repeats and duplicated genes. Learn about multilocus approaches for accurate variant calling and robust estimation of paralog-specific copy numbers in whole-genome sequencing data. Gain insights into the diversity of human copy number variation and its implications for clinical next-generation sequencing. Discover cutting-edge methodologies that address the complexities of analyzing highly similar genetic sequences, enhancing the accuracy and reliability of genomic analysis in both research and diagnostic settings.