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Tag: Genetics

AUA: Genomic Urine Test Accurately Predicts Bladder Cancer

Findings based on a subset of 10 genes with greatest predictive power

Homozygous Familial Hypercholesterolemia Has Variable Presentation

Low-density lipoprotein cholesterol goals achieved by a minority of adults and children despite multiple lipid-lowering treatments

Population Genomic Screening for Three Conditions Likely Cost-Effective

Genomic screening for Lynch syndrome, hereditary breast and ovarian cancer syndrome, and familial hypercholesterolemia likely cost-effective for adults younger than 40 years

Genetically Predicted Rheumatoid Arthritis Linked to Osteoporosis

Positive association was robust when MR Egger, weighted median, weighted mode were exploited

Diagnosis of Difficult-to-Diagnose Developmental Disorders Discussed

Diagnosis made in about 41 percent of probands with severe disorder; 76 percent had pathogenic de novo variant

Germline Genetic Testing Feasible for Advanced Prostate Cancer

High satisfaction reported for genetic testing model including education, follow-up with genetic counselor

Poor Sleep Patterns Linked to Increased Asthma Risk

Additive risk seen, with more than twofold higher risk for combination of poor sleep and high genetic susceptibility

H. Pylori Infection Negatively Modifies Genetically Increased Risk for Gastric Cancer

Interaction identified between H. pylori infection and pathogenic variants in homologous-recombination genes

Cluster Headache, Migraine Highly Circadian

Circadian pattern of attacks identified, and circadian associations seen at systems and cellular levels

Genomic Loci Associated With Addiction Identified

Nineteen independent SNPs identified that were genome-wide significant for general addiction risk factor