Tag: Genetics
Misclassification of Variants As Pathogenic in Black Americans
Misclassification of benign variants as pathogenic in multiple patients with African, unspecified ancestry
Monogenic Forms of Diabetes Can Occur in Preterm Infants
Sixty-six percent of preterm infants diagnosed with diabetes before age 6 months had genetic etiology
F12, STC2 Genes May Help Predict Breast Cancer Survival
Tracking DNA activity patterns may someday help women with HER2+ breast cancers
Expanded Carrier Screening May Up Detection of Genetic Disorders
Expanded screening modeled more hypothetical fetuses at risk for severe or profound conditions
OCT1, SERT Genes Play Role in Metformin Intolerance
Intolerance up with low-expressing SERT S* alleles; multiplicative interaction for OCT1, SERT genotypes
ESR1 Mutations Tied to Worse Survival in Metastatic Breast CA
ESR1 mutations prevalent in ER-positive metastatic breast cancer and linked to shorter survival
Targeted Therapies Beneficial in KRAS-Mutated NSCLC
Improved progression-free survival for patients treated with therapy not containing erlotinib
Study IDs Two Novel Loci Linked to Insulin Sensitivity
Associations for BCL2 and FAM19A2 were independent of known cardiometabolic loci
15 Genomic Regions Associated With Depression Identified
Many located near genes involved in brain development
Potential New Asthma Genes ID’d in Genome-Wide Study
Combining GWAS with subsequent lung eQTL analysis revealed disease-associated SNPs