AsianScientist (Jul. 14, 2023)–The human genome has supplied perception into our understanding of illnesses, significantly when sequencing know-how was developed within the Nineteen Seventies and refined after the flip of the century. Genomics grew to become an necessary subject and sequencing methods continued to evolve, with one of many newest breakthroughs being next-generation sequencing (NGS).
Entire exome sequencing (WES) is an NGS method that particularly examines the entire exonic areas of the genome, also referred to as the human exome. The exome accommodates the protein-coding areas of the genome and makes up just one to 2 % of the entire genome, however is estimated to account for 85 % of disease-related mutations.
Finding out exomes has turn into an excellent method to figuring out and understanding illnesses, significantly uncommon and inherited illnesses. The arrival of WES has additionally considerably diminished sequencing prices by focusing on solely the area of curiosity, making it sensible for a number of purposes and altering the way in which laboratories method genomic and translational analysis.
In October 2021, Twist Bioscience, a world main artificial biology and genomics firm, launched the Twist Exome 2.0, its newest panel iteration for WES. Twist Exome 2.0 is a part of the corporate’s suite of NGS instruments that allow end-to-end workflows. In reality, the panel was launched shortly after the discharge of the Enzymatic Fragmentation 2.0 Package for NGS library preparation.
The Twist Exome 2.0 panel accommodates biotinylated oligonucleotide probes, also referred to as baits, which can be hybridized to a fragmented genome pattern after which pulled down by magnetic streptavidin beads. These allow clinicians and researchers to isolate and enrich solely the areas of curiosity from the genome for sequencing.
“Having the ability to sequence solely the areas you’re all for dramatically lowers the quantity of sequencing required per genome and, due to this fact, the whole value of sequencing. It turns into far more possible to run bigger research to elucidate the causes of illness or perceive the genome,” defined Dr Emily Leproust, CEO and co-founder of Twist Bioscience.
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Twist Bioscience’s Exome 2.0 goal enrichment panel is designed based mostly on the newest fashions of the genome and contains disease-causing variants from key genetic databases, akin to ACMG73, ClinVar, GenCode and RefSeq. The probes used within the panel, that are uniquely double-stranded, are additionally optimized to enhance seize effectivity and sequencing efficiency.
“Our understanding of the genome continues to evolve, and common updates are made to the genome meeting. As we collect extra knowledge, we’ve got the chance to repeatedly enhance the design efficiency and effectivity of our goal enrichment merchandise,” added Dr Leproust.
Twist Exome 2.0 has been demonstrated to outperform different out there WES options when it comes to protection uniformity and sequencing effectivity. In a published technical note, the panel reportedly has probably the most uniform protection with fold-80 scores of 1.3 in comparison with 4 competing panels. That includes excessive uniformity mixed with a low duplicate charge and excessive on-target charge, it covers 97 % of the goal bases in no less than 30x sequencing depth with solely 6Gb sequencing. In different phrases, in comparison with different panels, Twist Bioscience’s answer presents increased high quality knowledge and effectivity yield. These comparisons have been performed by a third-party laboratory.
As well as, Twist Exome 2.0 has a low GC bias, enabling detection of goal areas throughout various GC ranges. The robustness of the panel is additional illustrated by its functionality to cowl 36.5Mb of human exonic areas in addition to non-protein-coding areas and telomerase reverse transcriptase (TERT) promoters. The panel units a brand new business benchmark when it comes to protection breadth, depth and uniformity in WES.
“With the Exome 2.0, we’re delivering best-in-class sequencing effectivity. It comes right down to having the perfect stability between uniform protection throughout the genome and low off-target charges in comparison with different commercially out there exome panels. With extremely uniform protection, we wish to guarantee we don’t over-sequence or under-sequence any area for the best effectivity,” described Dr Leproust.
Just like different merchandise in Twist Bioscience’s goal enriched NGS portfolio, Twist Exome 2.0 is customizable to swimsuit the completely different content material and workflow necessities of clinicians and researchers. Extra probe content material will be simply spiked in, and the panel helps pattern multiplexing, whereby a number of samples will be enriched and sequenced collectively in a single run.
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Since its introduction to the market, Twist Exome 2.0 has been used throughout numerous areas of analysis, from screening for copy-number variants in uncommon illnesses to narrowing down the genetic threat components of epilepsy. In a more moderen examine, the panel was used to find out genetic variants in glioblastoma, a sort of aggressive mind most cancers.
In keeping with Dr Leproust, “We’ve got dozens of publications on our web site that spotlight how this panel has been used to grasp the human genome. Its purposes span completely different analysis areas in oncology, developmental illnesses, congenital abnormalities, neurological issues—it may be used to review nearly any situation with a genetic part.”
With best-in-class properties, Twist Exome 2.0 emphasizes unparalleled protection and optimized efficiency in WES. It permits high-throughput sequencing to review the mutational profiles, genetic variations and scientific phenotypes of varied illnesses, together with germline cancers. It additionally displays Twist Bioscience’s observe report of constantly and impactfully pushing the envelope in NGS know-how.
“At Twist, we create options that enable our prospects to maximise their knowledge throughout sequencing in probably the most environment friendly method. Exome 2.0 is a game-changer as a result of it represents the following iteration of what genomics researchers are in search of: probes designed based mostly on up to date content material from latest genome assemblies, low GC bias and protection uniformity,” concluded Dr Leproust.
Attain out to Twist Bioscience to be taught extra about Twist Exome 2.0 here.
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Supply: Twist Bioscience; Yurchanka Siarhei/Shutterstock
Disclaimer: This text doesn’t essentially mirror the views of AsianScientist or its employees.