Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Genome Wide Association Studies (GWAS) have mapped thousands of genetic variants
associated with complex disease risk and regulating quantitative traits, thus exploiting an …

Glaucomas are neurodegenerative diseases that cause vision loss, especially in the elderly.
The mechanisms initiating glaucoma and driving neuronal vulnerability during normal aging …

Upper urinary tract urothelial carcinoma (UTUC) is one of the common urothelial cancers. Its
molecular pathogenesis, however, is poorly understood, with no useful biomarkers available …

Mutations in somatic cells generate a heterogeneous genomic population and may result in
serious medical conditions. Although cancer is typically associated with somatic variations …

Clinical research and practice in the 21st century is poised to be transformed by analysis of
computable electronic medical records and population-level genome-scale patient profiles …

Computational predictors of genetic variant effect have advanced rapidly in recent years.
These programs provide clinical and research laboratories with a rapid and scalable method …

The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

Preemptive targeted pharmacogenetic testing of candidate variations in DPYD is currently
being used to limit toxicity associated with fluoropyrimidines. The use of innovative next …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …