Browsing Department of Clinical Science by Journals "GigaScience"
Now showing items 1-2 of 2
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epialleleR: an R/Bioconductor package for sensitive allele-specific methylation analysis in NGS data
(Journal article; Peer reviewed, 2023)Low-level mosaic epimutations within the BRCA1 gene promoter occur in 5–8% of healthy individuals and are associated with a significantly elevated risk of breast and ovarian cancer. Similar events may also affect other ... -
PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping
(Peer reviewed; Journal article, 2019-07-30)Background Mapping biomedical data to functional knowledge is an essential task in bioinformatics and can be achieved by querying identifiers (e.g., gene sets) in pathway knowledge bases. However, the isoform and ...