Whole Genome PacBio HiFi Reads Sequencing Test

Long reads Whole Genome
Sequencing is the analysis of the entire genome, including
intronic and exonic regions of DNA delivering highly accurate long reads.

• The data provided thanks to this method can be used to identify all the genetic structural variations in the genome, including non-coding and structural variants.
• Long reads WGS is very useful to investigate inherited disorders and rare diseases associated with genetic structural variations, for diagnosis and to develop targeted therapies and drugs for fighting their progression. The technology also allow to investigate on epigenetics mutations.

The WGS application can be extended to non-human genomes, for example for agricultural or bacteria segments, in fact it was widely used during the Covid-19 pandemic.

The analysis is powered by PacBio technology, a third generation technology which, compared to the second generation technologies does not use to cut DNA molecules.

Single Molecule Real-Time (SMRT) sequencing is the core technology powering long-read sequencing platforms. This innovative approach was the first of its kind and is now a proven technology used in all fields of life science.

• Long Reads: with reads tens of kilobases in length you can readily assemble complete genomes and sequence full-length transcripts. SMRT sequencing provides exceptional read lengths without compromising throughput or accuracy.
• High Accuracy: with exceptional accuracy, low sequencing-context bias, and accurate mapping of reads, SMRT sequencing provides the information needed to confidently call and detect all variants.
• Uniform Coverage: no bias based on GC content means you can sequence through regions inaccessible to other technologies. Readily sequence through AT-rich or GC-rich regions, highly repetitive sequences, long homopolymers, and palindromic sequences with SMRT sequencing.
• Single-Molecule Resolution: capturing sequence data from native DNA or RNA molecules enables highly accurate long reads with >99.9% single-molecule accuracy. Readily achieve high-quality reads to confidently resolve variants of all types.

With HiFi sequencing you get the benefits of short reads and traditional long reads in one easy-to-use technology.

Advanced scientific discoveries require sequencing data that is both accurate and complete. PacBio sequencing technology has evolved to a different type of long read, known as highly accurate long reads, or HiFi reads.

PacBio is the only sequencing technology to offer HiFi reads that provide accuracy of 99.9%, on par with short reads and Sanger sequencing. With HiFi reads you no longer have to compromise long read lengths for high accuracy sequencing to address your toughest biological questions.

The result is a comprehensive overview of the whole genome, with the highest level of accuracy and precision.

• VCF: this file format contains the variant calls, or differences between the individual's genome and a reference genome. It includes information such as the type of variant, the location in the genome, and any associated annotation data.

We provide more than 100 panels for a wide range of needs and opportunities.

Thanks to our panels you will be able to transform DNA Data into complete information to guide some of the most critical decisions in your patients' lives. You can also customize the panels you need for yourself or your patient.

You can purchase all the panels within the Genome Manager Platform in the "Shop" section or you can upload your raw data into our Avanti software and purchase the panels of interest directly within it.