Scientific publication CSIRO co-leads the search for epistasis to reveal hidden secrets in our genome We co-led a consortium of international researchers in drafting a manifesto to uncover some of the unexplained features in our genome. Genetic epistasis refers to the changes in the effect on phenotype of
Growing a bi-lateral grant into a nation-building international initiative CSIRO and GSI Lab, one of Indonesia’s leading genomics testing facilities, expanded a relationship-building grant from Australia’s Federal Department of Foreign Affairs and Trade (DFAT) into an opportunity with Indonesia’s
case study Case study: Identifying Population-specific Genetic Markers of Metabolic Syndrome in South Koreans The ClientThe Seoul Clinical Laboratories (SCL) is South Korea’s most prominent diagnostic and reference laboratory, specialising in a wide range of medical testing and diagnostic services. Established in 1983 as the first
ConsentGuardian: Informing and Protecting Genomic Data Decisions The Current State of ConsentBiomedical research has long relied on broad consent models where participants provide a one-time, open-ended consent for their data to be used across a wide array of future studies.
Bioinformatics Student Exchange Program (BSEP) 2025 The Bioinformatics Student Exchange Program (BSEP) is open for 2025, offering bioinformatics internships in Australia. BSEP is aimed at domestic and overseas students, giving them the opportunity to contribute to world-class science and
Explainer Bridging Machine Learning and Statistics with the RFlocalfdr approach Genetic analyses aim to deepen our understanding of the genetic architecture of complex diseases including Alzheimer’s disease (AD) and cardiovascular disease, thereby improving the clinical care and treatment of these diseases. The
Bridging Science and Policy at Science Meets Parliament 2024 Question: What do you get when you bring together Australian policy maker, changemakers and scientists? Science meets parliament of course. If you haven’t heard of this it’s an annual gathering of
sBeacon: Scalable genomic and phenotypic data exchange The exchange of genomic and phenotypic data is becoming increasingly crucial by the day for delivering the best care for ailments with genetic root causes. Though the problem at hand may seem mundane
Explainer LLM Assisted Querying for Health APIs Leveraging the power of LLMs to make APIs more accessible. In this explainer, we iteratively develop a system to understand natural language of user, translate to ontology terms and search across data in a Beacon instance.
Advanced Therapeutics The RNA Riddle: Why Getting the Secondary Structure Right is Important RNA secondary structures are key in RNA virus function and evolution, and thus are potential therapeutic targets. Identifying these is challenging, but AI/ML techniques provide a promising approach.
Bioinformatics Products Extending the Beacon Protocol for Pathogen Analysis and Response This blog explores the emergence of PathSBeacon for pathogen data, highlighting potential enhancements to the Beacon protocol's utility for researchers. PathSBeacon successfully adopted GA4GH's beacon protocol to facilitate pathogen genomic data exchange at scale.
case study Case study: Synthetic data for quality control in genomic pathology CSIRO’s Transformational Bioinformatics group creates a quality control pipeline for genomic pathology
Bioinformatics Student Exchange Program (BSEP) 2024 The Bioinformatics Student Exchange Program (BSEP) is open for 2024, offering bioinformatics internships in Australia. BSEP is aimed at overseas students, giving them the opportunity to contribute to world-class science and gain experience
Scientific publication Towards risk governance of clinical genomics in Australia Professionals within the clinical genomics system recognise the significant benefits of genomics in healthcare, but they hold divergent perspectives on the ethical, technical, and social risks involved.
Commentary Genomic Data Privacy in the Era of Decentralised Systems Genomic data privacy concerns addressed by DLT. Benefits: data ownership control, improved security, encrypted data sharing. Challenges: user adoption, user-friendliness
Conference Reflections on Neuro-and-Symbolic AI for Bioinformatics Insights from #AAAI23: Deep learning neural networks, like chatGPT, impress academics. Yet, a noticeable gap exists between improving neural networks and classical reasoning algorithms. Can this gap be bridged to combine their strengths? #AI #neuralnetworks #classicalreasoning
Explainer Data sharing in genomics: The Beacon Protocol This Explainer-series is aimed at describing the “Beacon Protocol”
Scientific publication The Limitations of Current Cystic Fibrosis Screening Recommendations Reproductive carrier testing is an important tool for well-informed family planning especially for inherited recessive disorders like cystic fibrosis. Our recent Prenatal Diagnosis publication in collaboration with Genepath showed that current screening recommendations
case study Case study: Indonesia's PathsBeacon The ClientGSI Lab is the second largest sequencing facility in Indonesia started through the social entrepreneurship initiative to support the Government and society in accelerating the handling of COVID-19. They are registered as
Scientific publication New research finds genomic professionals support patient genomic data ownership in Australia Advances in genomics have huge potential for patient outcomes. But with this momentum comes an ethical tension around the rights of patients to own their data. Our new research explores perceptions of health
Why GWAS matter? As technology improves and associated costs decrease DNA sequencing is becoming more prevalent in health care settings. DNA sequencing technologies are gaining relevance in the clinic because of its decreasing costs and the
Conference Australasian Genomic Technologies Association - AGTA 2022 The AGTA 2022 conference was held on the Sunshine coast and celebrated the 20th anniversary with a variety of topics, including: cancer and medical genomics; plant and animal genomics; computational biology, bioinformatics and statistical genetics.
Trends Terraform Module for EMR Serverless A template to create your own EMR Serverless cluster on AWS, including all necessary IAM roles and some extra features.
Explainer The Many Ways to the Cloud (Part 2): From on prem to EMR Serverless This Explainer-series is aimed at describing the “many ways to the cloud”
case study Case study: Automating neonatal genomic screening pipeline The ClientGenepath is an Australian owned and operated company, using next generation genetic testing for neonatal testing. Genepath developed, NextGen, which is the world’s first accredited, peer reviewed neonatal screening test using
