walaj / svaba

Related projects: ⓘ

• AstraZeneca-NGS / VarDict
  VarDict
  ☆187Updated 8 months ago
• hall-lab / svtyper
  Bayesian genotyper for structural variants
  ☆125Updated 3 years ago
• BoevaLab / FREEC
  Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data
  ☆146Updated 3 weeks ago
• hall-lab / svtools
  Tools for processing and analyzing structural variants.
  ☆147Updated 2 years ago
• brentp / smoove
  structural variant calling and genotyping with existing tools, but, smoothly.
  ☆230Updated 3 months ago
• PacificBiosciences / IsoSeq
  Iso-Seq - Scalable De Novo Isoform Discovery from Single-Molecule PacBio Reads
  ☆187Updated 2 months ago
• lgmgeo / AnnotSV
  Annotation and Ranking of Structural Variation
  ☆210Updated 2 weeks ago
• mkirsche / Jasmine
  Jasmine: SV Merging Across Samples
  ☆178Updated last year
• marbl / SALSA
  SALSA: A tool to scaffold long read assemblies with Hi-C data
  ☆175Updated 4 months ago
• GenomeRIK / tama
  Transcriptome Annotation by Modular Algorithms (for long read RNA sequencing data)
  ☆125Updated last year
• vibansal / HapCUT2
  software tools for haplotype assembly from sequence data
  ☆202Updated last month
• PapenfussLab / gridss
  GRIDSS: the Genomic Rearrangement IDentification Software Suite
  ☆250Updated 8 months ago
• gpertea / gffcompare
  classify, merge, tracking and annotation of GFF files by comparing to a reference annotation GFF
  ☆199Updated 2 months ago
• PacificBiosciences / pbmm2
  A minimap2 frontend for PacBio native data formats
  ☆170Updated 3 months ago
• dkoboldt / varscan
  Variant calling and somatic mutation/CNV detection for next-generation sequencing data
  ☆152Updated last year
• broadinstitute / gatk-sv
  A structural variation pipeline for short-read sequencing
  ☆169Updated this week
• HKU-BAL / Clair3
  Clair3 - Symphonizing pileup and full-alignment for high-performance long-read variant calling
  ☆233Updated last month
• fritzsedlazeck / SURVIVOR
  Toolset for SV simulation, comparison and filtering
  ☆350Updated 9 months ago
• atks / vt
  A tool set for short variant discovery in genetic sequence data.
  ☆190Updated 3 years ago
• nanoporetech / pipeline-structural-variation
  Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data
  ☆113Updated 2 years ago
• nanoporetech / pipeline-transcriptome-de
  Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads
  ☆106Updated last year
• mozack / abra2
  ABRA2
  ☆90Updated last year
• OpenGene / GeneFuse
  Gene fusion detection and visualization
  ☆114Updated 2 years ago
• ga4gh / benchmarking-tools
  Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
  ☆187Updated 3 years ago
• haowenz / chromap
  Fast alignment and preprocessing of chromatin profiles
  ☆188Updated last month
• timkahlke / LongRead_tutorials
  Workflows and tutorials for LongRead analysis with specific focus on Oxford Nanopore data
  ☆123Updated 2 years ago
• secastel / phaser
  phasing and Allele Specific Expression from RNA-seq
  ☆107Updated 2 months ago
• abyzovlab / CNVnator
  a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads
  ☆208Updated 2 years ago
• ndaniel / fusioncatcher
  Finder of Somatic Fusion Genes in RNA-seq data
  ☆141Updated last year
• PacificBiosciences / pbsv
  pbsv - PacBio structural variant (SV) calling and analysis tools
  ☆125Updated last year