genetic risk variants
Major Depression Contributors Uncovered in Multi-Ancestry GWAS Meta-Analysis
Researchers identified almost 700 major depression-associated variants using genotyping profiles for around 5 million diverse participants with or without major depression.
Pediatric Cancer Study Spells Out Structural Variant Risk Contributors
Researchers unearthed rare germline structural variants involved in pediatric solid tumor risk by analyzing genome sequences from patients, parents, and adult control individuals.
Multi-Ancestry Study Uncovers Genetic Contributors to Progressive Eye Disease
Researchers uncovered 63 new or known risk loci for age-related macular degeneration using data for ancestrally diverse individuals enrolled in half a dozen prior studies.
Genomic testing for almost 1,300 autosomal recessive or X-linked conditions appeared to be feasible, well accepted, and informative for couples in Australia.
BRCA1/2 Mutations Aren't Equal: Researchers Push for Reduced Penetrance Pathogenic Variant Category
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Researchers worked with two labs to identify 16 consensus lower-risk pathogenic variants and are pushing for greater recognition of such variants.