Tag: Genetics
Study Explores Influence of Genetics, Environment in Disease
Genetic component for 40 percent of phenotypes studied; 25 percent have environmental risk factors
Newborn Genomic Sequencing Can Identify Disease Risk
Sequencing detects risk for disorders not anticipated based on infants' known clinical, family history
Three Novel Loci Associated With Polycystic Ovary Syndrome ID’d
Genetic links with obesity, T2DM, lipids suggest shared genetic architecture for PCOS, metabolic traits
Exome Sequencing Provides Genetic Diagnosis for Some With CKD
Genetic diagnosis for 9.3 percent of 3,315 patients with chronic kidney disease from two cohorts
Many Americans Unaware of Promise of Personalized Medicine
41 percent are not at all familiar with personalized medicine; only 5 percent say they are very familiar
Rare Variants Associated With Interval Breast Cancers
The presence of these variants is also linked to increased risk for death
Results of Pediatric Genomic Epilepsy Tests Often Reclassified
Over 30 percent of pediatric patients with genetic dx, undiagnosed conditions had results reclassified
Genetic Test Helps ID Benign Versus Malignant Thyroid Nodules
ThyroSeq v3 has 94 percent sensitivity, 82 percent specificity for Bethesda III and IV nodules
Polygenic Risk Score Predicts Tx Response in Schizophrenia
PRS significantly predictive of adjusted 12-week symptom scores across four cohorts
Genetic Risk Score IDs Breast CA Risk in Female Child CA Survivors
Survivors in highest quintile of polygenic risk score have increased relative rate of breast cancer
