ClinGen framework reveals recurrent CNV burden in diagnostic microarray series
A ClinGen-anchored review of 2,062 constitutional microarray cases found that recurrent CNVs formed about one-quarter of pathogenic findings, but prenatal ...
Tag: ClinGen
Whole-Exome Sequencing Finds Genetic Answers in a Third of Complex Autism Cases
A retrospective study of 320 Turkish patients with autism found established molecular diagnoses in 32.5 percent of the cohort, with ...
Is CBL Really a Melanoma Driver? Variant Interpretation Under Scrutiny in Stage II Disease
Pathologists challenge the designation of CBL as a new driver gene in stage II melanoma, arguing that variant reporting gaps ...
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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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