Categoría: The American Journal of Human Genetics
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning
Single-cell tissue-specific gene prioritization using machine learning (STIGMA) is an approach to prioritize candidate genes for congenital diseases. STIGMA uses single-cell RNA-seq data to capture the dynamics of gene expression within cell population…
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A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden
We investigated how genetic and non-genetic host characteristics influence the accumulation of both somatic point mutations and copy number variants. We found fine-scale genetic ancestry and polygenic risk scores were associated with tumor mutational b…
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Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis
Shook et al. developed and applied a massively parallel reporter assay for the allergic disease eosinophilic esophagitis (EoE). They identified common polymorphisms associated with EoE risk that also impacted transcriptional regulation. This study is a…
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A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis
We develop a fine-mapping method, called h2-D2, utilizing a continuous global-local shrinkage prior, and propose an approach to define credible set of causal variants in this framework. Our proposed method outperforms the state-of-art fine-mapping meth…