3 Result(s)
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Amanda B Spurdle
Life Sciences
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Article
Open AccessCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
The contribution of germline copy number variants (CNVs) to risk of develo** cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analys...
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Article
Open AccessMulti-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility
Genome-wide association studies (GWAS) have revealed sixteen risk loci for endoemtrial cancer but the identification of candidate susceptibility genes remains challenging. Here, we perform transcriptome-wide a...
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Article
Open AccessAssessment of branch point prediction tools to predict physiological branch points and their alteration by variants
Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, B...
