PaRDal links DNA and RNA sequencing to resolve cancer variant uncertainty
A study of 204 people showed that an integrated DNA-and-RNA sequencing workflow supported pathogenicity for 12 candidate splicing variants while ...
Tag: variant classification
When One Gene Means Many Diseases: Multi-Disorder Genes Drive Lab Disagreement on Variant Pathogenicity
A national study of 128 clinical genetics laboratories finds that variants in multi-disease genes such as APOB, LZTR1, MYH7, and ...
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 ...
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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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