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Suger0917
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Reconstruction of focal amplifications with long reads
Automated identification of micronuclei for chromosomal instability (CIN) quantification.
Tool for analyzing the inter-mutational distances between SNV-SNV and INDEL-INDEL mutations. Tool separates mutations into clustered and non-clustered groups on a sample-dependent basis.
Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms
A tool for detecting somatic variants in single cell data
Nextflow pipeline for nanocompore analysis
Concurrent identification of m6A and m5C modifications in individual molecules from nanopore sequencing
SigProfilerExtractor allows de novo extraction of mutational signatures from data generated in a matrix format. The tool identifies the number of operative mutational signatures, their activities i…
A computational method for inferring the cancer cell fraction of tumour structural variation from whole-genome sequencing data.
A curated list of awesome nanopore analysis tools.
A curated list of bioinformatics bench-marking papers and resources.
Fast and accurate gene fusion detection from RNA-Seq data
Efficient genotyping bi-allelic SNPs on single cells
Haplotype-aware CNV analysis from single-cell RNA-seq
Somatic copy variant caller (CNV) for next generation sequencing
The analysis repository for the Open Pediatric Brain Tumor Atlas Project
FAN-C: Framework for the ANalysis of C-like data
Extracts images from Lif files and outputs in common image formats
A set of tools written in Perl and C++ for working with VCF files, such as those generated by the 1000 Genomes Project.
“When everything is connected to everything else, for better or worse, everything matters.” Bruce Mau
Joint normalization of two Hi-C matrices, visualization and detection of differential chromatin interactions. See multiHiCcompare for the analysis of multiple Hi-C matrices