With highly accurate long reads (HiFi reads) from the Sequel II System, powered by Single Molecule, Real-Time (SMRT) Sequencing technology, you can comprehensively detect variants in a human genome. HiFi reads provide high precision and recall for single nucleotide variants (SNVs), indels, structural variants (SVs), and copy number variants (CNVs), including in difficult-to-map repetitive regions.
With the Sequel II System powered by Single Molecule, Real-Time (SMRT) Sequencing technology and SMRT Link v8.0, you can affordably and effectively detect structural variants (SVs), copy number variants, and large indels ranging in size from tens to thousands of base pairs. PacBio long-read whole genome sequencing comprehensively resolves variants in an individual with high precision and recall. For population genetics and pedigree studies, joint calling powers rapid discovery of common variants within a sample cohort.
Learn how highly accurate long-read sequencing from the Sequel IIe Systems delivers data you can trust for advanced biological insights across a range of applications.
Discover the benefits of HiFi reads and learn how highly accurate long-read sequencing provides a single technology solution across a range of applications.
Learn why it is critically important to understand accuracy in DNA sequencing to distinguish important biological information from sequencing errors.
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.
In this webinar, Adam Ameur of SciLifeLab at Uppsala University shares how he uses Single Molecule, Real-Time (SMRT) Sequencing applications for medical diagnostics and human genetics research, including sequencing of single genes and de novo assembly of human genomes as well as a new method for detection of CRISPR-Cas9 off-targets.
Jeremy Schmutz discusses the increased throughput and reduced project costs using HiFi reads from the PacBio Sequel II System in his work sequencing, assembling, and analyzing a variety of genomes at the HudsonAlpha Institute for Biotechnology.
Highly accurate long reads, known as HiFi reads, are a new tool in scientists’ sequencing toolbox. Hear PacBio users share how they are using HiFi reads to explore the genomes, transcriptomes, metagenomes and the benefits HiFi reads provide for their addressing critical life science questions.
Accurate sequencing data is key for University of Florida scientist Ana Conesa. She is using PacBio HiFi reads from the Sequel II System to identity alternative isoforms and determine the functional impact of different isoform expression in her transcriptome research.
The Earlham Institute was one of the first labs to adopt the PacBio Sequel II System. Karim Gharbi, Head of Genomics Pipelines, discusses how SMRT Sequencing and HiFi reads have increased throughput and reduced costs for genome, transcriptome, and metagenomics projects.
In present study, single molecule-real time sequencing technology was used to obtain a validated set of microsatellite markers for application in population genetics of the primitive fish, Chitala chitala. Assembly of circular consensus sequencing reads resulted into 1164 sequences which contained 2005 repetitive motifs. A total of 100 sequences were used for primer designing and amplification yielded a set of 28 validated polymorphic markers. These loci were used to genotype n?=?72 samples from three distant riverine populations of India, namely Son, Satluj and Brahmaputra, for determining intraspecific genetic variation. The microsatellite loci exhibited high level of polymorphism with PIC values…
Personalized healthcare (PHC) based on an individual’s genetic make-up is one of the most advanced, yet feasible, forms of medical care. The Tohoku Medical Megabank (TMM) Project aims to combine population genomics, medical genetics and prospective cohort studies to develop a critical infrastructure for the establishment of PHC. To date, a TMM CommCohort (adult general population) and a TMM BirThree Cohort (birth+three-generation families) have conducted recruitments and baseline surveys. Genome analyses as part of the TMM Project will aid in the development of a high-fidelity whole-genome Japanese reference panel, in designing custom single-nucleotide polymorphism (SNP) arrays specific to Japanese, and…