New database turns lab-scale gene tests into clinical evidence for uncertain variants
A new interface called MaveMD translates large-scale variant effect experiments into calibrated clinical evidence, enabling classification of 75 percent of ...
Tag: genomic medicine
Whole-Genome Sequencing Outperforms Panel and Exome Tests for Diagnosing Myopathies
A nationwide French study of 265 patients shows whole-genome sequencing achieved a 26 percent conclusive diagnostic yield in previously unresolved ...
Trio Exome Sequencing Reveals Genetic Clues to Autism in Rwandan Children
A trio-based whole-exome sequencing study of Rwandan children with autism has identified rare pathogenic and uncertain variants in nearly a ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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