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- Gayther SA 4
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Epithelial ovarian cancer (EOC) genetics research has been focused on germline or somatic mutations independently. Emerging evidence suggests that the somatic mutational landscape can be shaped by the germline genetic background. In this st…
Background: Bacterial vaginosis (BV) is one of the most common vaginal conditions and is associated with significant obstetric and gynecological risks. Previous studies have demonstrated an association between menses and the vaginal dysbios…
To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases an…
BackgroundKnown risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort.MethodsSingl…
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard…
BackgroundAdhesive capsulitis of the shoulder (AC) is characterized by fibrosis and contracture of the glenohumeral joint capsule, resulting in progressive stiffness, pain, and restriction of motion of the shoulder. The prevalence of AC is …
Quantifying the functional effects of complex disease risk variants can provide insights into mechanisms underlying disease biology. Genome-wide association studies have identified 39 regions associated with risk of epithelial ovarian cance…