Machine learning method dicast spots disease-causing DNA deletions short-read tools miss
A machine learning method called dicast, trained on a manually curated multi-technology ground truth, detects structural variants from short-read sequencing ...
Tag: structural variants
Giant DNA Swaps May Explain a Hidden Chunk of Human Disease Heritability
A new computational tool shows that structural variants, despite making up less than 0.6 percent of analyzed variants, account for ...
Prime Assembly Enables Targeted Genomic Integration and Large-Scale DNA Rearrangements
A new prime editing-based strategy called prime assembly enables precise integration of large DNA fragments and programmable genomic rearrangements without ...
Pangenome-Powered Tool SVPG Sharpens Structural Variant Detection and Speeds Graph Updates
The new SVPG method uses pangenome graphs to detect structural variants accurately from long-read sequencing data while rapidly incorporating new ...
Mutational Fingerprints Reveal the Hidden Forces Driving Prostate Cancer
A new Nature study integrates multiple classes of genomic mutations to define the distinct mutational processes that shape prostate cancer ...
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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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