hereditary disease
ESHG: New Variant Analyses by Broad Institute Enhance Rare Disease Diagnostics
Analyzing data from the Broad's Center for Mendelian Genomics, researchers showed the diagnostic utility of exome CNVs and mitochondrial DNA variants.
ESHG: German Study Shows Utility of Rapid Whole-Genome Trio Sequencing in Critically Ill Children
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Project Baby Lion diagnosed almost half of more than 60 critically ill children from a dozen German hospitals, with an average turnaround of under three days.
NHS England Unveils Five-Year Genomic Healthcare Strategy
The new strategy places genomics at the heart of a new effort to deliver a sustainable model of healthcare for patients.
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.
With rapid nanopore whole-genome sequencing and targeted analysis, researchers can determine a newborn's genetic risk for a disorder in three hours.