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- W4283758052 startingPage "e202201446" @default.
- W4283758052 abstract "Candidate causal risk variants from genome-wide association studies reside almost exclusively in noncoding regions of the genome and innovative approaches are necessary to understand their biological function. Multi-marker analysis of genomic annotation (MAGMA) is a widely used program that nominates candidate risk genes by mapping single-nucleotide polymorphism summary statistics from genome-wide association studies to gene bodies. We augmented MAGMA to create chromatin-MAGMA (chromMAGMA), a method to nominate candidate risk genes based on the presence of risk variants within noncoding regulatory elements (REs). We applied chromMAGMA to a genetic susceptibility dataset for epithelial ovarian cancer (EOC), a rare gynecologic malignancy characterized by high mortality. This identified 155 unique candidate EOC risk genes across five EOC histotypes; 83% (105/127) of high-grade serous ovarian cancer risk genes had not previously been implicated in this EOC histotype. Risk genes nominated by chromMAGMA converged on mRNA splicing and transcriptional dysregulation pathways. chromMAGMA is a pipeline that nominates candidate risk genes through a gene regulation-focused approach and helps interpret the biological mechanism of noncoding risk variants for complex diseases." @default.
- W4283758052 created "2022-07-02" @default.
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- W4283758052 date "2022-07-01" @default.
- W4283758052 modified "2023-09-26" @default.
- W4283758052 title "chromMAGMA: regulatory element-centric interrogation of risk variants" @default.
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- W4283758052 doi "https://doi.org/10.26508/lsa.202201446" @default.
- W4283758052 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35777959" @default.
- W4283758052 hasPublicationYear "2022" @default.
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