Murdoch Childrens Research Institute
Clinicians have put together a software program that scans databases for new information and applies it to thousands of patient genomes on a monthly basis.
At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, researchers outlined plans from eight studies in the US, the UK, Europe, and Australia.
Australian Researchers Adapt Melt Curve Methylation Test for Infant Rare Genetic Disorder Screening
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The test combines melt curve analysis and high-throughput, quantitative PCR to detect Prader-Willi, Angelman, and Dup15q syndromes in infants.
GnomAD Consortium Details Range of Human Genetic Variation From Large Dataset
The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.
Australian Government Awards A$33M in Grants for Genomics Research
The grants were awarded as part of Australia's Genomics Health Futures Mission, which was launched in 2018 as part of a broader health research initiative.