Exome Panels
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Exome Panels
Twist Exome 2.0 is designed to detect rare and inherited diseases, as well as germline cancers. This panel’s high uniformity and low off-target rate deliver best-in-class sequencing efficiency, enabling quality data to be collected with less sequencing. With superior coverage of major genetic databases (RefSeq, CCDS, GenCode, Clinvar, ACMG73 and more) and the addition of clinically relevant non-coding pathogenic and likely pathogenic variants, Twist Exome 2.0 provides the value of multiple clinical panels all wrapped into one, easily customizable package.
Victorian Clinical Genetics Services (VCGS) and Twist have collaborated to address the challenges physicians face in diagnosing heritable diseases when routine testing falls short. The result is the Twist Alliance VCGS Exome – 40.1 MB, a diagnostic panel drawing on VCGS’s extensive clinical genomics experience. This panel covers the entire exome, providing dedicated boosting of clinically relevant genes (Mendeliome), and is designed with special attention to additional coverage of clinically relevant loci beyond traditional gene coding regions.
The Twist Alliance VCGS Exome – 40.1 MB is a highly uniform panel, considered best-in-class, and aims to facilitate the identification of alleles linked to heritable diseases. Whether used for carrier screening or pre- and post-natal testing, this panel is intended to streamline the diagnostic process.
It’s important to note that the content of the Twist Alliance VCGS Exome – 40.1 MB has not been fully validated through the complete Twist workflow, and for guidance on assay set-up, contacting Twist Customer Support is recommended. Additionally, this panel is not ISO-13485 certified.
Utilizing validated data from clinical patient samples, this panel is constructed on Twist’s flexible Next-Generation Sequencing (NGS) platform, allowing easy and rapid customization of content. It provides a thorough examination of the exome, with additional enrichment focusing on clinically relevant areas associated with cancer, rare diseases, and inherited conditions.
Leveraging the exceptional uniformity of Twist NGS probes, the assay achieves cost and throughput efficiency. The Broad Institute Genomics Platform has already processed over 250,000 samples, showcasing the panel’s effectiveness and keeping the institute at the forefront of exome sequencing.
The panel’s design encompasses the Twist Core exome, the mitochondrial genome, and validated coding and non-exonic regions of interest, including ACMG73 genes, supplemental coverage of OMIM and COSMIC regions, and specific targets defined by Broad. It offers a comprehensive solution for a range of research applications.
Important to note, the content of the Twist Alliance Clinical Research Exome – 34.9 MB has not been fully validated through the complete Twist workflow. For guidance on assay set-up, users are advised to contact Twist Customer Support. Additionally, this panel is not ISO-13485 certified.
The mouse is an extremely important model system for studying genetic variation, tumor mutations, and phenotypic outcomes as well as the therapeutic effect of pharmaceutical agents. As genetic variant databases are continuously updated, the Twist Mouse Exome panel is thoughtfully designed and built from the most current databases. When combined with Twist’s expanding portfolio of library preparation and enrichment reagents, the complete toolset allows researchers to achieve industry-leading coverage across target regions while optimizing sequencing cost and sample throughput.
Understanding the genetic variations among dog breeds is crucial for unraveling the genetic regulation of traits and understanding the basis and progression of diseases in dogs. Comprehensive gene panels, such as exomes, play a pivotal role in enhancing veterinary diagnostics and associated clinical medicine. These Next-Generation Sequencing (NGS) panels, like the Twist Alliance Canine Exome developed in collaboration with the Broad Institute’s Karlsson lab, are essential tools for advancing canine genomic research. They contribute to improved understanding of canine cancers and potential therapeutics.
The Twist Alliance Canine Exome panel is designed to achieve the following objectives:
- Covers coding exons of canine genes.
- Facilitates comparative genomic studies between canine and human genomes.
- Includes regions of known importance in human cancers.
- Allows for cost-effective deep sequencing.
Furthermore, canine genomic research has demonstrated benefits for human medical research, revealing genetic similarities between human and canine tumors, such as Copy Number Variations (CNVs), differential gene expressions, and structural chromosome abnormalities. This interdisciplinary approach underscores the potential for insights gained in canine genetics to contribute to advancements in human medicine.
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