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Tag: Genetics

Homozygous Familial Hypercholesterolemia Has Variable Presentation

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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

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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

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

Diagnosis of Difficult-to-Diagnose Developmental Disorders Discussed

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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

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

Poor Sleep Patterns Linked to Increased Asthma Risk

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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

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

Cluster Headache, Migraine Highly Circadian

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

Genomic Loci Associated With Addiction Identified

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

Clinical Utility Poor for Prostate Cancer Germline Panels in African Men

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Seventeen variants identified as potentially oncogenic in 17.7 percent of South African male patients