Ultra-Rare Diseases: Making the Genetic Link
A study identified genetic causes for many ultra-rare diseases, discovering new diseases and enhancing diagnostic accuracy.
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Search Results for: genetic testing
Pioneering Technique Transforms Genetic Disorder Diagnoses
Researchers developed a rapid and accurate method for diagnosing Mendelian genetic disorders in just a few hours.
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New Rapid Method for Determining Virus Infectivity
Researchers have developed a new rapid assay that determines whether a virus is infectious or non-infectious.
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Handheld Diagnostic Tool Matches PCR Accuracy for Disease Detection
A new handheld diagnostic tool uses similar techniques as PCR, showing high accuracy in detecting HIV and SARS-CoV-2.
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Using AI to Improve Detection of Rare Diseases
Researchers developed an AI-based algorithm to identify at-risk patients for acute hepatic porphyria (AHP), a rare genetic disease.
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