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enquiries@rgtesting.com.au

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enquiries@rgtesting.com.au

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Level 3, Rivercity Private Hospital 401 Milton Rd, Auchenflower Brisbane QLD 4066

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Leading Edge Technology & Services

 

Next Generation Sequencing

Next-generation sequencing (NGS) is a relatively new technology that speeds up the analysis of the genetic code. RGT has developed a cutting edge NGS solution, which includes customised whole exome sequencing to dramatically improve rare disease diagnosis.

 

  • Unlike conventional gene sequencing, NGS technology allows for parallel sequencing of thousands of genes with the flexibility to handle multiple patient samples in less than a day.
  • The clinical diagnosis powered by affirmative genetic answers from NGS technology has revolutionised the landscape of the medical decision-making process and impacted the patient communities.

 

Bioinformatics

Bioinformatics is a computer-based approach to rapidly analyse the 3.5 billion letters of the genetic code.  Our proprietary bioinformatics solution allows us to spot single disease-causing changes in this code. Our solution, provides high-quality, clinical-grade exome sequencing offering a precise clinical diagnosis of disease-causing changes (SNV, MNV, InDels, CNV, SV) in an array of hereditary disorders.

 

  • Next-Generation Sequencing allows for the comprehensive analysis of target genes in a timeframe that facilitates clinical action.
  • Laboratory protocols are subjected to thorough & stringent quality checks after each step while transforming raw sequencing reads into variants. Variant calling is a critical step upon which all downstream analysis and interpretation processes rely.
  • To ensure quality and accuracy, our scientists have implemented a robust and reproducible mutation analysis pipeline using Nextflow.
  • Our state of the art computing facility is easily scalable to meet the growing demands of this technology. Our “Cognitive Knowledge base” is a semi-automated, self-learning system that reads through research articles to find new gene-disease and gene-phenotype correlations. The cognitive system provides up-to-date information to our genome analysts while preparing the clinical reports.

 

Artificial Intelligence (AI)

Artificial intelligence is a computer-based technology that is capable of self-learning and is specifically utilised to find disease-causing mutations from thousands of variants.

 

  • Our expert data scientists have implemented machine learning to accelerate the process of prioritizing variant discovery.
  • Variant classification directly depends upon the available supporting evidence. With the help of Natural Language Processing (NLP) algorithms and semi-supervised curation programs regularly updating our Cognitive Knowledgebase.
  • Artificial Intelligence has simplified the complex polygenic disorder data analysis by providing literature evidence.