Tag: Genetics
Next-Gen Sequencing of CSF Improves Diagnosis of CNS Infections
Eight of 13 diagnoses made solely by metagenomic NGS had likely clinical effect, seven guided treatment
Polygenic Risk Score Reliably Predicts Coronary Artery Disease
PRS predicts prevalent CAD but does not perform as well for predicting incident, recurrent CAD
Specialized Programs in Clinical Cardiovascular Genetics Needed
New cardiovascular subspecialist, genetic cardiologist, needed to interpret genetic variation
Most At-Risk Opt Out of Genetic Testing for Huntington Disease
Lack of cure, inability to 'undo knowledge' primary reasons for not going through with testing
Blood Donor Screening Data IDs Familial Hypercholesterolemia
Highest estimated prevalence of FH seen in young versus older donors, and in men versus women
Biomarker Test Predicts Mild, Serious IBD in Newly Diagnosed
Test based on genetic signature of CD8 T cells during active disease
Diagnostic Criteria Proposed for Advanced-Age Proteinopathy
Gaps remain in understanding of limbic-predominant age-related TDP-43 encephalopathy
Rare Variants Identified in DENND1A Gene in PCOS
Variants are associated with reproductive and metabolic traits in PCOS families
Machine Learning Can Speed Diagnosis of Genetic Diseases in Children
Automated, retrospective diagnoses concurred well with expert manual interpretation
AAP Updates Guidance for Care in Neurofibromatosis Type 1
Report describes criteria for diagnosis, role of genetic testing, possible health manifestations
