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
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: 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
case study Case Study: Boosting product confidence of a world-leading RNA therapeutics start-up CSIRO’s Transformational Bioinformatics group validates the importance of long non-coding RNAs (lncRNAs) as novel cancer therapeutics targets. The ClientAmaroq Therapeutics is a New Zealand-based biotechnology company targeting long non-coding RNAs for next
Dementia Discovering novel drivers of Alzheimer’s disease through genetic interactions Alzheimer’s disease is the most common form of dementia and predominantly affects people over 65 years old. Alzheimer’s disease is driven by multiple genetic and environmental influences, including complex interplay between
Scientific publication BitEpi, a software tool to find hidden epistatic interactions in the genome The Transformational Bioinformatics Group published BitEpi, a software tool to find the hidden gene-gene interactions in the genome. Complex diseases are driven my multiple genes and understanding this interplay could be the holy
The Lighthouse The Lighthouse: World-first software could revolutionise how we understand disease An Australian machine-learning program is the first in the world to handle genomic datasets with a trillion data points, helping scientists decode the mysteries of inherited illness, says Macquarie University Honorary Associate Professor
Genome Insights Trillion data points to identify disease-causing genes Researchers from CSIRO, Australia’s national science agency, have accomplished a world-first by processing one trillion points of genomic data through VariantSpark, an artificial intelligence-based platform, which can help pinpoint the location of
GenomeWeb GenomeWeb: Machine Learning Tool Enables Analysis of Complex, Polygenic Phenotypes With Epistastic Interactions CHICAGO – Bioinformaticians from Australia's Commonwealth Scientific and Industrial Research Organisation (CSIRO) have released a computing method capable of analyzing complex, polygenic phenotypes that may involve epistatic interactions using massive sets of whole-genome data.
ZDNet ZDNet: Aussie researchers leverage compute power to analyse genomic data and match donors CSIRO has touted advances in processing data to pinpoint the location of specific disease-causing genes in the human genome, while PathWest is matching bone marrow donors with candidates. The Commonwealth Scientific and Industrial
News itNews: CSIRO uses AI to crunch a trillion genomic data points To identify disease-causing genes. CSIRO researchers crunched one trillion genomic data points in the cloud to help locate parts of the human genome that cause disease. The CSIRO's bioinformatics group used its own
VariantSpark Video Tutorial: VariantSpark on the Cloud in a Few Clicks Video tutorial to get you setting up and running VariantSpark on the cloud in under 5 min.
AWS Genomic and Medical Big Data Go Serverless The teams at CSIRO and QIMR Berghofer have joined forces to develop a prototype serverless genotype-phenotype (gen-phen) database on AWS. Here’s how the tool works.
Research Project Motor Neurone Disease and Dementia CSIRO is a partner in the Dementia Team Grant led by Prof Ian Blair at Macquarie University – one of only six funded applications.
Databricks Databricks: How Apache Spark-based analysis and Databricks notebooks impact genomic research Databricks wrote a nice blog post about us. Catch it here.
