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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
cfDNAPro:cfDNAPro extracts and Visualises biological features from whole genome sequencing data of cell-free DNA
cfDNA fragments carry important features for building cancer sample classification ML models, such as fragment size, and fragment end motif etc. Analyzing and visualizing fragment size metrics, as well as other biological features in a curated, standardized, scalable, well-documented, and reproducible way might be time intensive. This package intends to resolve these problems and simplify the process. It offers two sets of functions for cfDNA feature characterization and visualization.
Maintained by Haichao Wang. Last updated 5 months ago.
visualizationsequencingwholegenomebioinformaticscancer-genomicscancer-researchcell-free-dnaearly-detectiongenomics-visualizationliquid-biopsyswgswhole-genome-sequencing
29 stars 6.18 score 13 scripts