Browsing Department of Clinical Science by Journals "Bioinformatics"
Now showing items 1-2 of 2
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Personal Cancer Genome Reporter: Variant interpretation report for precision oncology
(Peer reviewed; Journal article, 2018-05)Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations. There is a general scarcity of tools that can (i) systematically interrogate cancer genomes in the ... -
ramr: an R/Bioconductor package for detection of rare aberrantly methylated regions
(Journal article; Peer reviewed, 2022)Motivation: With recent advances in the field of epigenetics, the focus is widening from large and frequent disease- or phenotype-related methylation signatures to rare alterations transmitted mitotically or transgenerationally ...