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Improving Human Health through Genomics with Highly Accurate Long Reads

Highly accurate High-Fidelity long-read sequencing, known as HiFi sequencing, is a new third-generation sequencing technology that provides longer, more in-depth reads that may hold the key to helping us to find the answers to the causes of rare diseases. Here at Novogene, we have partnered with PacBio to bring you the latest HiFi Long-read Sequencing technologies for all your sequencing needs. Here is what you need to know to get started.

What is HiFi Sequencing?

HiFi Long-read sequencing offers long and highly accurate reads that are advancing several aspects of biology, including RNA sequencing, variant detection, genome assembly, and epigenetics. This is because the reads are 100 times longer than the average next-generation-sequencing reads while still retaining accuracy. HiFi reads are a single technology solution for a range of applications and offer even coverage, genome completeness, and allele resolution. This removes the need for carrying out multiple tests which take time and can cost a lot of money. In addition, the more in-depth reads offered by HiFi long-read sequencing help make bioinformatics easier, which can help reduce the time spent looking at complicated data. HiFi sequencing is also much more reliable as it has been shown to have the lowest error rate out of all technologies to date.

HiFi at Novogene

At Novogene, we have access to the latest sequencing technology to provide our customers with the latest genomic services. We have recently deepened our partnership with PacBio to bring HiFi services to all our customers around the globe. We have eight state-of-the-art PacBio Sequel lle sequencers that can be used for HiFi reads to help find answers to research questions that were previously unattainable.

HiFi sequencing can be used for all your genome sequencing needs including:

  1. Plant and animal genome sequencing.
  2. Human genome sequencing.
  3. De novo genome sequencing.
  4. Microbial genome sequencing.
  5. Full-length transcriptome sequencing.

This technology has a range of applications, from identifying transcript and alternative splicing events to discovering new genes and improving genome annotation. In fact, this technology has already helped researchers to make discoveries that have advanced our understanding of several diseases, including Huntington’s disease and primary immunodeficiency. So how exactly can Novogene help you venture into the world of HiFi sequencing?

Work Flow

To help you use this latest technology, we have established an end-to-end service workflow that aims to meet all our customers’ needs. Our HiFi Long Read Sequencing protocol includes sample quality check, library construction and quality check, sequencing, and bioinformatics analysis. We provide high-quality data and can also assist in producing publication reading figures and data analysis.

So what do you need to provide us with? Well to get started, we first need to receive your DNA samples. DNA extraction can be carried out using a wide range of commercially available kits. Some best practices should be followed when extracting your DNA to ensure the quality is suitable for HiFi sequencing.

  • The tissue used in DNA extraction should be fresh or flash frozen.
  • Blood should not have been stored for longer than one week at 4 – 8 degrees Celsius.
  • The samples should be treated with proteinase K to remove binding proteins.
  • Remove all RNA using RNase A.

Once we receive your DNA samples, they undergo a sample quality control check using Gel electrophoresis (AGE) to assess the purity and integrity. Following this sample will also be checked using Pulse Field Gel Electrophoresis to get the DNA size, and we will use a Qubit to obtain the concentration. If your sample passes these quality control checks, we will begin library preparation.

The library preparation is carried out using the PacBio Library Prep Kit. Once the library has been produced, further checks will be carried out to ensure that it can be sequenced using the PacBio systems. Finally, once the raw data is collected, a data quality control check will be carried out to ensure that the data can be used in bioinformatics analysis.

Why Choose HiFi Sequencing?

HiFi sequencing provides highly accurate reads for better biology, which could help make huge advancements in human health and disease and provide answers to your research needs that have not been met so far. Novogene is the leading provider of genomic services globally, providing access to the latest in sequencing technology and bioinformatics expertise. HiFi sequencing provides highly accurate reads for better biology, which could help make huge advancements in human health and disease and provide answers to your research needs that have not been met so far. As the leading provider of genomic services globally, Novogene has one of the largest capacities of HiFi long reads sequencing and is equipped with the whole series of PacBio platforms. The new introduction of the PacBio Sequel IIe systems brings increased accuracy and efficiency to Novogene’s global customer base. Novogene will always be committed to offering stable and high-qualified sequencing services to support you!

To learn more about HiFi long-read sequencing, its application in human health and rare and genetic disease research, as well as the services that Novogene provide, listen to our webinar available here: https://www.novogene.com/us-en/resources/webinar/improving-human-health-through-genomics-with-highly-accurate-long-reads/