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Software R package for latent class analysis, short time Fourier transform, fuzzy clustering, support vector machines, shortest path computation, bagged clustering, naive Bayes classifier, generalized k-nearest neighbour.
Software tool for optimizing likelihood conditioning on high point estimate of local genetic correlation and assesses statistical evidence that the two traits not only exhibit correlated genetic effects but are likely influenced by shared causal variants.Enhances specificity and interpretability in detecting colocalized signals. This targeted framework improves causal inference in pleiotropic architectures, supporting more informed discovery of biomarkers and therapeutic targets.
Database showing regions (hg38) detected as putative genomic duplications. url does not work letter sent
Text-mined and routinely updated database of drivers, oncogenes and tumor suppressors in different types of cancer.
Software R package for estimating average telomere length (TL) for paired end, whole genome sequencing (WGS) sample.Telomere computational analysis tool.
Software tool as Python script to remove bias from Isaac aligned data by clipping all reads for variant positions by 5 bases and producing a modified vcf file.
Software Python library for creating comutation plots to visualize genomic and phenotypic information. Used for visualizing genomic and phenotypic information via comutation plots.
Software Python package used to compute mutational signatures.
Software R package to visualize mapped reads along with annotation as track layers for NGS dataset such as ChIP-seq, RNA-seq, miRNA-seq, DNA-seq, SNPs and methylation data.
Software R package to calculate T cell fractions from WES data from hg19 or hg38 aligned genomes.
Software R package providing classes, methods and test data based on maximum likelihood and Bayesian inference.
Software R package for identifying peaks in data related to genomics, genetics, or epigenetics research.
Software R package to time somatic mutations relative to clonal and subclonal copy number states and calculate relative timing of copy number gains.
Software R package containing the full genomic sequences for Homo sapiens as provided by UCSC (genome hg38, based on assembly GRCh38.p14 since 2023/01/31).
Software R package for discovery of cancer driver genes and non-coding elements in whole genome sequencing data. Cancer driver discovery tool for analysis of somatic mutations derived from whole genome sequencing.
Software R package for analysing multiple omics datasets in the context of molecular pathways, biological processes and other types of gene sets.Method that first prioritises genes through multi-omics data fusion and then identifies enriched pathways with gene-level evidence from input datasets.
Software tool to identify transposable element insertions from paired-end Illumina reads, barcode linked-reads, long reads (PacBio or Nanopore), or hybrid data from different sequencing platforms and takes whole-exome sequencing (WES) or whole-genome sequencing (WGS) data as input.
Software tool to annotate high-impact five prime UTR variants either creating new upstream ORFs or disrupting existing upstream ORFs. Annotates variants in 5'untranslated regions (5'UTR) that create or disrupt upstream open reading frames.
Software tool to detect linear enrichment of somatic mutations in user-defined regions of interest.
Software application as PCAWG6 workflow to merge SVs from Sanger (BRASS), Broad Inst (DRanger and SnowMan ) and EMBL/DKFZ (DELLY).