hereditary disease
Revvity, Element Biosciences to Collaborate on Newborn Sequencing Workflow
Revvity separately said that it expects Q4 2024 revenue growth of 5 percent, or 6 percent organically, year over year.
GeneDx Stock Soars as Firm Reports 44 Percent Revenue Growth, $1.2M Adjusted Net Income in Q3
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Revenues in the third quarter were driven by diagnostic exome and genome tests, which grew 76 percent in revenue and 46 percent in volume, prompting the firm to raise its 2024 guidance.
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.