Epilepsy gene variants differ sharply between East Asian and European populations
A nucleotide-resolved analysis of ClinVar and gnomAD reveals seventeen epilepsy variants dramatically enriched in East Asian populations and shows the ...
Tag: carrier screening
Simple DNA Biosensor Delivers Rapid Screening for Southeast Asian α-Thalassemia Deletion
Thai researchers have developed a one-step LAMP and lateral flow dipstick biosensor that detects the Southeast Asian α-thalassemia 1 deletion ...
Long-Read Sequencing Steps Into the Clinic for Spinal Muscular Atrophy Diagnosis
A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...
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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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