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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.
