Cancer remains a major health issue globally, with increasing incidence and mortality rates. While immunotherapy has revolutionized cancer treatment, not all patients benefit, urging the identification of predictive biomarkers. This study utilized public datasets and tumor samples to examine the expression and promoter hypermethylation of DLEC1 in normal and tumor tissues, to evaluate its potential as prognostic and immunother...

APOE ’s ε4 haplotype ( APOE4 ) is late onset Alzheimer’s disease’s (LOAD) strongest genetic risk factor. Therefore, accurately modeling APOE4 ’s effect is critical to understanding LOAD. This is especially important as APOE4 odds ratios (OR) vary across racial and ethnic (R/E) groups. We analyzed the APOE4 -LOAD association in 3,196 East Asian, 31,105 non-Hispanic White (White), 1,646 Hispanic and Latino (Hispanic), and 6,068...

Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility and guide future improvements. The Critical Assessment of Genome Interpretation (CAGI) conducts the ongoing Annotate-All-Missense (Missense Marathon) challenge, in which missense variant effect predictors (also called variant impact...

The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, next generation sequencing, including a specific Hereditary Eye Disease Enrichment Panel or Whole exome sequencing, was employed to screen (likely) pathogenic Single-nucleotide Variants (SNVs) and small Insertions and Deletions (indels) for these cases. All available SNVs and indels were f...

Epidemiological studies demonstrate an association between migraine and chronic kidney disease (CKD), while the genetic basis underlying the phenotypic association has not been investigated. We aimed to help avoid unnecessary interventions in individuals with migraine through the investigation of phenotypic and genetic relationships underlying migraine, CKD, and kidney function. We first evaluated phenotypic associations using...