The Present and Future of HiFi Whole-Genome Sequencing for Rare Disease

In this talk, Dr. Wenger describes how whole-genome sequencing (WGS) with accurate, long HiFi reads identify all the variations found with short reads plus small variants in difficult-to-map regions and structural variants across the genome. He further explains how HiFi reads also support direct phasing of variants into haplotypes. Researchers worldwide apply HiFi reads to explain rare disease cases unsolved by other technologies. Improvements in workflow, reliability, cost and throughput support the routine application of HiFi reads in large studies today and open a future of HiFi genomes as a standard tool for rare disease researchers.