Twist’s Human Comprehensive Exome is combined with VCGS’ validated inherited and rare disease content to develop the new assay
Twist Bioscience has collaborated with Australia-based Victorian Clinical Genetic Services (VCGS) for the development of a novel whole exome capture diagnostic assay.
The next-generation sequencing (NGS) technology will be used by the new assay to carry out analysis and sequencing of the entire exome.
It is designed to enhance clinical utility, specifically for diagnostics and carrier screening. The assay will help deliver better clinical management decisions to the patients and their families.
Twist’s Human Comprehensive Exome has been combined with VCGS’ customised and validated inherited and rare disease content to develop the new assay.
Specifically, the assay enables to focus on difficult to cover and non-coding regions outside the normal exome that are known to contain pathogenic variants, thereby helping to offer significant data for clinicians.
VCGS genetics and genomics division head Dr Sebastian Lunke said: “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 assay also facilitates reanalysis of data when new disease-causing genes are discovered. VCGS is authorised by Australian authorities to use the new assay as an in vitro diagnostic product.
The Twist Comprehensive Exome assay is said to expand upon the content of the Twist Human Core Exome to include coverage of over 99% of protein-coding genes from all three public genetic databases such as CCDS, RefSeq and GENCODE.
Twist Bioscience CEO and co-founder Dr Emily Leproust said: “As one of the largest providers of genetic services in Australia, VCGS helps families identify the potential cause of diseases, often at the prenatal stage. We are pleased to enable this specific and important screening for VCGS.”
In November last year, Twist Bioscience and Biotia have introduced a new assay for sequencing and surveillance of Covid-19.