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bioc
PureCN:Copy number calling and SNV classification using targeted short read sequencing
This package estimates tumor purity, copy number, and loss of heterozygosity (LOH), and classifies single nucleotide variants (SNVs) by somatic status and clonality. PureCN is designed for targeted short read sequencing data, integrates well with standard somatic variant detection and copy number pipelines, and has support for tumor samples without matching normal samples.
Maintained by Markus Riester. Last updated 2 days ago.
copynumbervariationsoftwaresequencingvariantannotationvariantdetectioncoverageimmunooncologybioconductor-packagecell-free-dnacopy-numberlohtumor-heterogeneitytumor-mutational-burdentumor-purity
132 stars 9.88 score 40 scriptsbioc
TitanCNA:Subclonal copy number and LOH prediction from whole genome sequencing of tumours
Hidden Markov model to segment and predict regions of subclonal copy number alterations (CNA) and loss of heterozygosity (LOH), and estimate cellular prevalence of clonal clusters in tumour whole genome sequencing data.
Maintained by Gavin Ha. Last updated 5 months ago.
sequencingwholegenomednaseqexomeseqstatisticalmethodcopynumbervariationhiddenmarkovmodelgeneticsgenomicvariationimmunooncology10x-genomicscopy-number-variationgenome-sequencinghmmtumor-heterogeneity
97 stars 8.47 score 68 scriptshautaniemilab
jellyfisher:Visualize Spatiotemporal Tumor Evolution with Jellyfish Plots
Generates interactive Jellyfish plots to visualize spatiotemporal tumor evolution by integrating sample and phylogenetic trees into a unified plot. This approach provides an intuitive way to analyze tumor heterogeneity and evolution over time and across anatomical locations. The Jellyfish plot visualization design was first introduced by Lahtinen, Lavikka, et al. (2023, <doi:10.1016/j.ccell.2023.04.017>). This package also supports visualizing ClonEvol results, a tool developed by Dang, et al. (2017, <doi:10.1093/annonc/mdx517>), for analyzing clonal evolution from multi-sample sequencing data. The 'clonevol' package is not available on CRAN but can be installed from its GitHub repository (<https://github.com/hdng/clonevol>).
Maintained by Kari Lavikka. Last updated 1 months ago.
visualizationphylogeneticssoftwarespatialbioinformaticsphylogenetic-analysistumor-evolutiontumor-heterogeneityvisualization-tool
3 stars 5.18 score 2 scripts