Posted By: HGG Advances HGGA: What motivated you to start working on this project? AB: Clinical manifestations among C. trachomatis patients are highly variable. For example, up to 80% of C. trachomatis genital infections are asymptomatic and if left untreated, can lead to severe clinical outcomes such as pelvic inflammatory disease, ectopic pregnancies, and infertility.... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? MG: The pathogenesis of ankylosing spondylitis (AS) remains poorly understood. In other immune-mediated diseases, integrating genome-wide association studies with epigenomics and transcriptomics has successfully identified key pathogenic cell types, such as T cells in rheumatoid arthritis and B cells in systemic... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: There has been a lot of work in recent years on developing polygenic scores (PGS) for multi-ancestry populations, but most studies have focused on populations genetically similar to European and East Asian reference groups. In this project, we utilize data... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? ZL: Mendelian randomization (MR) is a powerful and increasingly popular tool for understanding the causal relationships between complex traits and diseases, especially with the growing availability of GWAS summary statistics. However, MR consistently faces the challenge of horizontal pleiotropy. While there... Read More
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