Murdoch Childrens Research Institute
Genomic testing for almost 1,300 autosomal recessive or X-linked conditions appeared to be feasible, well accepted, and informative for couples in Australia.
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.