AI Variant Scoring Tools Disagree Wildly in Gene-Based Genetic Association Studies
A large-scale UK Biobank study shows that five leading machine learning variant annotation methods produce markedly different calibration, power, and ...
Tag: rare variants
Trio Genome Sequencing Finds Genetic Causes in Most Kids Born Small Who Never Catch Up
A study of 99 children born small for gestational age found that trio-based whole-exome sequencing delivered a molecular diagnosis in ...
Rare Gene Variants May Explain Why Some Brains Are More Vulnerable to Concussion
Whole exome sequencing of 93 people with concussion history reveals a fivefold excess of rare damaging variants in ion channel ...
Rare Copy Number Variants Emerge as Schizophrenia Risk Factors in East Asian Populations
A large genomic study of East Asian ancestry populations has identified rare copy number variants linked to schizophrenia and, through ...
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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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