Advances in Clinical Genomics Profiling
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.
ESHG: UK 100K Genomes Project Demonstrates Diagnostic Potential of RNA-seq for Rare Diseases
Early analysis of transcriptomic sequencing data from over 4,400 rare disease patients revealed expression and splicing outliers that are likely disease-causing.
BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents
Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members.
Large Study of Early-Onset Colorectal Cancer Patients IDs Unique, Potentially Actionable Mutations
In younger patients, HER2 mutations were more prevalent in those who had MSI-high/TMB-high tumors, while POLE mutations were more common in MSS/TMB-high tumors, researchers reported at ASCO.
Genomic Study Reveals Three Different States of Ovarian Cancer Subtype
A longitudinal study used whole-genome sequencing data from pre- and post-treatment tumor samples to identify three states of an aggressive ovarian cancer type.
