It’s official—spring is here and everything’s blooming in Cleveland (Figures 1 and 2). The sun is out, which puts a spring in our step. You know what else puts a spring in my step? Good news from the Crawford lab! First thing’s first: kudos to current Crawford crew member Brittany Hollister for surviving her latest […]
We are at the time of the year when I like to reflect back on the Pacific Symposium on Biocomputing (PSB). It’s February, which means the snow is still blowing here at CWRU, and the temperatures are not inspiring the use of swimwear (Figure 1). The most recent PSB meeting was January 4-8, 2016, on […]
Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human traits is largely unknown. We analyzed the contribution of common Neandertal variants to over 1000 electronic health record (EHR)-derived phenotypes in 28,000 adults of European ancestry. We discovered and replicated associations of […]
Late-onset Alzheimer disease (AD) has a complex genetic etiology, involving locus heterogeneity, polygenic inheritance, and gene-gene interactions; however, the investigation of interactions in recent genome-wide association studies has been limited. We used a biological knowledge-driven approach to evaluate gene-gene interactions for consistency across 13 data sets from the Alzheimer Disease Genetics Consortium. Fifteen single nucleotide […]
Therapy development for adult diffuse glioma is hindered by incomplete knowledge of somatic glioma driving alterations and suboptimal disease classification. We defined the complete set of genes associated with 1,122 diffuse grade II-III-IV gliomas from The Cancer Genome Atlas and used molecular profiles to improve disease classification, identify molecular correlations, and provide insights into the […]
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significantly associated SNPs in two Australian studies (1,252 cases and 2,592 controls), three […]
Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.To determine the clinical phenotypes from EMRs for individuals with […]
It’s the middle of the fall semester, so it’s time for some good news updates from the Crawford Crew! Both former Crawford Crew members Drs. Nicole Restrepo and Logan Dumitrescu recently received an NSF travel award to present work from the Crawford lab at the 2016 Pacific Symposium on Biocomputing. Also receiving a travel award […]
Racial/ethnic differences for commonly measured clinical variables are well documented, and it has been postulated that population-specific genetic factors may play a role. The genetic heterogeneity of admixed populations, such as African Americans, provides a unique opportunity to identify genomic regions and variants associated with the clinical variability observed for diseases and traits across populations.To […]
There’s a chill in the air. Leaves have turned from bright green to brilliant red, yellow, and orange. The wind is picking up. You know what that means. Yes, it’s time for the annual American Society of Human Genetics (ASHG) meeting! ASHG is the professional organization for human genetics and has had an annual meeting […]
Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly in developed countries and typically affects more than 10% of individuals over age 80. AMD has a large genetic component, with heritability estimated to be between 45% and 70%. Numerous variants have been identified and implicate various molecular mechanisms and […]