Beth L. Cobb
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View article: Sequencing and health data resource of children of African ancestry
Sequencing and health data resource of children of African ancestry Open
Purpose Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this gap, Cincinnati Chil…
View article: Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Genetic sex validation for sample tracking in next-generation sequencing clinical testing Open
Objective Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of bot…
View article: Clinical Performance of a Lateral Flow SARS-CoV-2 Total Antibody Assay
Clinical Performance of a Lateral Flow SARS-CoV-2 Total Antibody Assay Open
Background Serological assays for SARS-CoV-2 are important tools for diagnosis in patients with negative RT-PCR testing, pediatric patients with multisystem inflammatory syndrome, and serosurveillance studies. However, lateral flow-based s…
View article: GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network Open
In summary, this study demonstrates clear confirmation of a previously described NAFLD risk locus and several novel associations. Further collaborative studies including an ethnically diverse population with well-characterized liver histol…
View article: Additional file 1: of GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
Additional file 1: of GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network Open
One excel file with 6 master tables divided into 18 table-sheets. (XLSX 227 kb)
View article: Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience Open
We examined the Institutional Review Board (IRB) process at 9 academic institutions in the electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic health record-based genomic medicine studies, to identify common q…
View article: A GWAS Study on Liver Function Test Using eMERGE Network Participants
A GWAS Study on Liver Function Test Using eMERGE Network Participants Open
Taken together, our data present interesting findings with strong confirmation of previous effects by simply using the eMERGE electronic health record phenotyping. In addition, our findings indicate that similar to the adult population, th…
View article: Autoantibodies targeting glomerular annexin A2 identify patients with proliferative lupus nephritis
Autoantibodies targeting glomerular annexin A2 identify patients with proliferative lupus nephritis Open
Purpose Patients with systemic lupus erythematosus (SLE) frequently develop lupus nephritis (LN), a complication frequently leading to end stage kidney disease. Immune complex deposition in the glomerulus is central to the development of L…
View article: Practical considerations in genomic decision support: The eMERGE experience
Practical considerations in genomic decision support: The eMERGE experience Open
These results suggest that barriers to PGx CDS implementations are generally surmountable. Moreover, PGx CDS implementation may not be any more difficult than other healthcare IT projects of similar scope, as the most significant delays en…