eesiribloom's Stars
zhixingfeng/iGDA
Detect and phase minor SNVs from long-read sequencing data
pcingola/SnpEff
bcgsc/straglr
Tandem repeat expansion detection or genotyping from long-read alignments
google/deepsomatic
DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing data.
fitzgerald-lab/ecAssemble
A tool to generate long read assemblies of extra-chromosomal DNA
kevingroup/COMSV
COMSV (Cancer Optical Mapping based Structural Variation detection) is a pipeline for SV detection based on nanochannel optical mapping data.
cortes-ciriano-lab/ReConPlot
treangenlab/methphaser
MethPhaser: methylation-based haplotype phasing of human genomes
odelaneau/shapeit5
Segmented HAPlotype Estimation and Imputation Tool
dwinter/pafr
Read, manipulate and visualize 'Pairwise mApping Format' data in R
bcgsc/mavis
Merging, Annotation, Validation, and Illustration of Structural variants
WGLab/ContextSV
An alignment-based, generalized structural variant caller for long-read sequencing/mapping data
KolmogorovLab/minda
KolmogorovLab/Wakhan
Haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data
walaj/VariantBam
Filtering and profiling of next-generational sequencing data using region-specific rules
mbhall88/rasusa
Randomly subsample sequencing reads or alignments
HKU-BAL/ClairS-TO
ClairS-TO - a deep-learning method for tumor-only somatic variant calling
twolinin/longphase
1kg-ont-vienna/sv-analysis
SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel
AmpliconSuite/CoRAL
Reconstruction of focal amplifications with long reads
freeseek/score
Tools to work with GWAS-VCF summary statistics files
xjtu-omics/SVision
Detecting genome structural variants with deep learning in single molecule sequencing
yekaizhou/duet
SNP-Assisted SV Calling and Phasing Using ONT
ccagc/QDNAseq
QDNAseq package for Bioconductor
cortes-ciriano-lab/savana
Somatic structural variant caller for long-read data
KolmogorovLab/Severus
A tool for somatic structural variant calling using long reads
HKU-BAL/ClairS
ClairS - a deep-learning method for long-read somatic small variant calling
raphael-group/hatchet
HATCHet (Holistic Allele-specific Tumor Copy-number Heterogeneity) is an algorithm that infers allele and clone-specific CNAs and WGDs jointly across multiple tumor samples from the same patient, and that leverages the relationships between clones in these samples.
kcleal/dysgu
Toolkit for calling structural variants using short or long reads
WGLab/NanoCaller
Variant calling tool for long-read sequencing data