Illumina next-generation sequencing (NGS) has been the most widely adopted technology for human whole-genome sequencing (WGS), delivering an accurate, scalable, cost-effective solution, featured in over 300,000 scientific publications. However, a small portion of the genome remains challenging to map due to highly repetitive or highly homologous regions. Illumina Complete Long-Reads will address these edge cases and accelerate access to the remaining ~5% of genic regions. In this presentation, we will share use cases of Complete Long Reads and highlight research being done by collaborators around the world.
Marwan Shinawi, MD, FACMG
Professor, Pediatrics Division of Genetics and Genomic Medicine
Washington University School of Medicine in St. Louis
Staff Product Manager, Product Management
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