Article
Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.
Scientific reports - 28 Sept 2024
Xavier Joana M, Magno Ramiro, Russell Roslin, de Almeida Bernardo P, Jacinta-Fernandes Ana, Besouro-Duarte André, Dunning Mark, Samarajiwa Shamith, O'Reilly Martin, Maia António M, Rocha Cátia L, Rosli Nordiana, Ponder Bruce A J, Maia Ana-Teresa
Abstract excerpt
Understanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association studies (GWAS), which remains challenging. Since most loci fall in active gene regulatory regions, we developed a novel approach facilitated by pinpointing the variants with greater regulatory potential in the disease's tissue of origin. Through genome-wide...
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