hereditary disease
Repeat Expansion Prevalence in Populations Higher Than Assumed, Study Finds
Researchers used genome sequence data for nearly 82,000 individuals to explore RED-related allele frequencies and features across populations.
Genome Sequencing Adds 8 Percent to Diagnostic Yield for Rare Diseases Over Other Genetic Tests
Researchers found that genome sequencing uncovered several types of pathogenic variants that had eluded exome sequencing and other types of genetic tests.
ESHG: Short-Read Genome Sequencing Boosts Rare Disease Diagnoses in European Solve-RD Project
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So far, 90 out of 836 or about 10 percent of families who were analyzed by short-read genome sequencing as part of Solve-RD have received a diagnosis.
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.