In this talk, Dr. Matsumoto describes his research of a family with syndromic intellectual disability. Trio-base exome analysis could not find any culprit mutation. Therefore, he and his team applied trio-based HiFi long-read WGS using two flowcells for a patient and one flowcell each for her father and mother. Through systematic variant filtering, they could find a 12-kb copy neutral inversion disrupting a causative gene. In addition, they could confirm that the de novo inversion occurred on the paternal chromosome through the haplotype phasing. These data demonstrate the utility of HiFi long-read WGS in solving patients with rare diseases.
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.
Short-read genome-wide sequencing for molecular diagnosis has revolutionized pediatric rare disease care in the past decade. However, most families remain without specific knowledge of the cause of their child’s illness. We seek to understand how long-read sequencing (HiFi sequencing) and functional genomics can fill the gaps and identify most causes of genetic disease. Dr. Pastinen describes a health-system-wide initiative to translate the latest research approaches to end the diagnostic “odyssey” affecting rare disease families, observing an expanded range of variation and enhanced interpretation of known variation by integrating HiFi data to unsolved rare disease cases.
PacBio Sequencing and software enable the generation of highly accurate (>99.9%) long reads. HiFi reads are accurate, essential, affordable, and can be used across a range of applications, including detection of all variant types, from single nucleotides to structural variants. PacBio’s end-to-end solutions feature library preparation paired with push-button analysis to support numerous workflows so you can run projects quickly and easily.
In this talk, Aaron Wenger from PacBio uses industry examples to describe how using highly accurate long-reads, or HiFi reads, provides the most comprehensive result, giving you greater than 99.9% accuracy, up to 25 kb long.
Learn how HiFi reads are empowering leading core labs and service providers, and how the new Sequel IIe System, which directly outputs HiFi reads, is making it easier than ever before to get started with HiFi reads or add capacity.
In this panel discussion, service providers share their experiences in bringing PacBio Systems to their labs, from the purchasing process, through managing demand for instrument time, and describe how PacBio solutions offer customers the most informative data available.
In this talk, Jonas Korlach, PhD, Chief Scientific Officer at PacBio describes how using PacBio HiFi reads, which are greater than 99.9% accurate and up to 25 kb long, led to the detection of structural variants in examples of previously unexplained rare genetic diseases. Genetic diseases affect as much as 10% of the population and over 50% of cases currently remain unexplained. Similarly, Mendelian diseases include over 8,500 described disorders, however at present ~40% have an unknown genetic cause. In addition, he highlights the strength of complete, phased, high-accuracy human WGS for simultaneously yielding high-quality information about any other locus…