Twist Bioscience and Victorian Clinical Genetic Services Collaborate on Development of Novel Whole Exome Capture Diagnostic Assay
- Focus on Rare Disease Prenatal and Pediatric Genetic Screening Services -
The assay was developed by combining Twist’s Human Comprehensive Exome with customized and validated inherited and rare disease content from VCGS, with a specific focus on minimizing gaps in clinically relevant genes and transcripts. In particular, the assay can target difficult to cover, non-coding regions outside the normal exome that are known to contain pathogenic variants, resulting in high-quality actionable data for clinicians. The assay also allows for reanalysis of data when new disease-causing genes are discovered. VCGS is accredited by Australian authorities to use this assay as an in vitro diagnostic product.
“Our collaboration with Twist has provided us with a unique whole exome analysis solution that provides comprehensive and consistent high quality results in all clinically relevant regions. The uniformity of coverage achieved using the Twist approach means there are fewer gaps in clinically relevant data, providing a high quality, high value service for our customers,” said
“As one of the largest providers of genetic services in
About Twist’s Comprehensive Exome Assay
Exome sequencing has become a widely-used practice in clinics and diagnostic labs. The Twist Comprehensive Exome assay expands upon the content of the Twist Human Core Exome to include coverage of more than 99 percent of protein-coding genes from all three key public genetic databases: CCDS, RefSeq and GENCODE, providing best-in-class coverage of the most up-to-date content. In addition, the assay can be customized quickly and affordably. Because of the updated and comprehensive coverage, the new assay allows customers to increase confidence in variant detection experiments while enjoying maximum sequencing efficiency and best coverage uniformity.
Victorian Clinical Genetics Services (VCGS) is a specialist prenatal, childhood and adult genetics service. VCGS is an Australian not-for-profit subsidiary of Murdoch Children’s
VCGS works closely with a wide range of support groups and health professionals, including general practitioners and specialists, to support them with the diagnosis and care of their patients, and to understand often rare and complex conditions. Clinical geneticists and genetic counsellors work in consultation with medical scientists and clinical bioinformaticians to provide the most accurate interpretation of genetic data. VCGS has a reputation for reliability, quality and exemplary service and is valued and trusted by health professionals in
Legal Notice Regarding Forward-Looking Statements
This press release contains forward-looking statements. All statements other than statements of historical facts contained herein, including without limitation, the ability of the novel whole exome capture assays to provide a more cost effective offering and to identify the potential causes of diseases, are forward-looking statements reflecting the current beliefs and expectations of management made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve known and unknown risks, uncertainties, and other important factors that may cause Twist Bioscience’s actual results, performance, or achievements to be materially different from any future results, performance, or achievements expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the risks and uncertainties of the ability to attract new customers and retain and grow sales from existing customers; risks and uncertainties of rapidly changing technologies and extensive competition in synthetic biology could make the products
Victorian Clinical Genetics Services: