Publications by authors named "Y Bradford"
Genome-wide association studies (GWAS) are an important tool for the study of complex disease genetics. Decisions regarding the quality control (QC) procedures employed as part of a GWAS can have important implications on the results and their biological interpretation. Many GWAS have been conducted predominantly in cohorts of European ancestry, but many initiatives aim to increase the representation of diverse ancestries in genetic studies.
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- Phenotypic data helps us understand how genomic variations affect living organisms and is vital for clinical applications like diagnosing diseases and developing treatments.
- The field of phenomics aims to unify and analyze the vast amounts of phenotypic data collected over time, but faces challenges due to inconsistent methods and vocabularies used to record this information.
- The Unified Phenotype Ontology (uPheno) framework offers a solution by providing a standardized system for organizing phenotype terms, allowing for better integration of data across different species and improving research on genotype-phenotype associations.
Article Synopsis
- Respiratory infections are a major global health issue, but the genetic factors influencing them are not well understood, leading to this study that aimed to investigate genetic determinants through genome-wide association studies (GWAS).
- The research analyzed data from 19,459 patients with respiratory infections and 101,438 controls in Stage 1, discovering 56 significant genetic signals, including one strong signal related to a gene important for immune response, but the follow-up Stage 2 study did not replicate these findings.
- Possible reasons for the lack of replication include variations in how the studies were conducted and differences in patient populations, but the research suggests a novel gene may be linked to susceptibility to respiratory infections, warranting further investigation.
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African ancestry. We conducted a genome-wide association study (GWAS) for POAG in 11,275 individuals of African ancestry (6,003 cases; 5,272 controls). We detected 46 risk loci associated with POAG at genome-wide significance.
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- * They analyzed data from nearly 5,000 participants prior to starting ART and over 3,000 at 48 weeks on ART, considering factors like age, sex, and genetic similarities to assess variability in CD4 T-cell counts.
- * Although the polygenic score (PGSlymph) had a minimal impact (<1%) on the variability in CD4 T-cell recovery, it showed some significant associations in individuals of African ancestry, particularly when included in more