PacBio HiFi reads (minimum 99% accuracy, 15-25 kb read length) have emerged as a powerful data type for comprehensive variant detection in human genomes. The HiFi read length extends confident mapping and variant calling to repetitive regions of the genome that are not accessible with short reads. Read length also improves detection of structural variants (SVs), with recall exceeding that of short reads by over 30%. High read quality allows for accurate single nucleotide variant and small indel detection, with precision and recall matching that of short reads. While many tools have been developed to take advantage of these qualities…
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…
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 webinar, Kristin Mars, Sequencing Specialist, PacBio, presents an introduction to PacBio’s technology and its applications followed by a panel discussion among sequencing experts. The panel discussion addresses such things as what long reads are and how are they useful, what differentiates PacBio long-read sequencing from other technologies, and the applications PacBio offers and how they can benefit scientific research.
With HiFi Sequencing from PacBio you get the benefits for short reads and traditional long reads in one easy-to-use technology. Watch this video to learn how HiFi sequencing is empowering scientists to strive for new breakthroughs.
Watch this short video to learn about highly accurate long-read sequencing and how HiFi reads can advance scientific discovery.