AI tool helps find life-saving medicine for rare disease
After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a ...
Study identifies rare diseases linked to increased COVID-19 mortality risks
An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals.
Long-read sequencing revolutionizes diagnosis of rare diseases
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
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Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis
Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.