Tag: Genetics
Mutational Signatures Can More Accurately ID MMR Deficiency
Mutational signatures better report mismatch repair deficiency than sequencing of MMR genes
Genetic Variants Tied to Preterm Birth, Gestational Length
Four loci found to be significantly associated with gestational duration, three with preterm birth
Universal Sequencing of Cancer Genes Ups Mutation Detection
Increased detection of heritable mutations over the predicted yield of testing based on guidelines
CYP2C9 Variants Linked to Clinical Events in VTE
Risk of any clinical event, death, non-major bleeding up for seniors treated with vitamin K antagonists
ApoB Levels More Closely Tied to Reduced CVD Events Than LDL
Change in apoB levels may be better predictor of clinical response than LDL-C, HDL-C levels
Novel Genetic Variant in IGF2 Linked to Reduced T2DM Risk
Variant is associated with allele-dosage dependent reduction in IGF2 isoform 2 expression
Telomere Length Prognostic in Hepatocellular Carcinoma
Shortened telomeres in tumor cells, CA-associated fibroblasts tied to reduced survival, upped recurrence
PERSEVERE-XP Improves Mortality Risk Stratification in Sepsis
Addition of network of 18 mortality risk assessment genes related to TP53 improves PERSEVERE
Phenotype Varies for Presumed Pathogenic Variants in KCNB1
De novo mutations in KCNB1 associated with variable neurodevelopmental disorder
Single-Color PCR Detects Cancer Mutations From Circulating DNA
Mutation assays were developed specific to the cancer driver mutations of patients' tumors
