Tag: Genetics
Concurrent RNA and DNA Sequencing Improves Variant Detection
Overall, 17.1 percent of 545 pathogenic/likely pathogenic splicing variants were dependent on RNA evidence for classification
Genetic Predisposition to Insomnia Linked to Insomnia-Like Problems
Children with polygenic risk score for insomnia have more insomnia-related sleep problems between ages 1.5 and 15 years
Risk-Adapted Starting Age of CRC Screening Varies by Sex, Genetics
Risk-adapted starting age of screening varies by 24 years for men in highest polygenic risk score decile versus women in lowest
ACG: Digital Risk Assessment Tool Can ID Risk for Cancer Susceptibility Syndromes
15.6 percent of those who underwent genetic testing had pathogenic/likely pathogenic variants
Impact of Cancer Predisposing Variants on Mortality Examined in Survivors
Carrying cancer predisposing genes linked to increased risk for subsequent malignant-related mortality in childhood cancer survivors
Four SNPs Linked to Chronic Complex Regional Pain Syndrome Type 1
Four nonsynonymous single nucleotide polymorphisms increased in discovery cohort and confirmed in replication cohort
Four Genetic Variants ID’d for Risk for Progressive Multifocal Leukoencephalopathy
All four risk variants were predicted to be deleterious and were located in two immune pathways
Shorter Leucocyte Telomere Length Linked to Dementia Risk
Shorter leucocyte telomere length also associated with smaller total brain volume, white matter volume, hippocampus volume
Alzheimer, Parkinson Disease Share Protective Association at HLA Locus
Protective HLA-DRB1*04 subtypes bind strongly to aggregation-prone tau PHF6 sequence when acetylated at K311
Genetic Evidence Supports Causal Effect for Diastolic BP on Benign Prostatic Hyperplasia
Risk effect of diastolic blood pressure on benign prostatic hyperplasia persists after conditioning with waist circumference
