Alternatives and similar repositories for Comparison-study-of-germline-CNV-calling-tools

Users that are interested in Comparison-study-of-germline-CNV-calling-tools are comparing it to the libraries listed below

• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆69Updated 2 years ago
• cphgeno / CNVbench
  Benchmarking of CNV calling tools
  ☆18Updated 6 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated last month
• RahmanTeam / DECoN
  ☆54Updated 3 years ago
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆78Updated last month
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆54Updated last year
• ENCODE-DCC / long-read-rna-pipeline
  ENCODE long read RNA-seq pipeline
  ☆52Updated 3 years ago
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆34Updated 10 years ago
• genome-in-a-bottle / genome-stratifications
  Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…
  ☆83Updated 3 years ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆82Updated 11 months ago
• CenterForMedicalGeneticsGhent / WisecondorX
  WisecondorX — An evolved WISECONDOR
  ☆109Updated last month
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 9 years ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆48Updated 5 years ago
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated last year
• molgenis / NIPTeR
  R Package for Non Invasive Prenatal Testing (NIPT) analysis
  ☆45Updated 6 years ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆83Updated 2 years ago
• PapenfussLab / sv_benchmark
  Comprehensive benchmark of structural variant callers
  ☆48Updated 4 years ago
• lpryszcz / bin
  My bioinfo toolbox
  ☆50Updated 11 months ago
• fakedrtom / SVAFotate
  ☆44Updated last year
• girirajanlab / CN_Learn
  CN-Learn
  ☆30Updated 5 years ago
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆57Updated last week
• pughlab / ConsensusCruncher
  ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…
  ☆21Updated 3 years ago
• a-slide / NanoCount
  EM based transcript abundance from nanopore reads mapped to a transcriptome with minimap2
  ☆64Updated last year
• gatk-workflows / gatk4-exome-analysis-pipeline
  This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…
  ☆55Updated 5 years ago
• PacificBiosciences / barcoding
  Lima - Demultiplex Barcoded PacBio Samples
  ☆67Updated 8 months ago
• deepomicslab / SpecHLA
  SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …
  ☆54Updated 3 months ago
• bioinfo-pf-curie / TMB
  Tumor Mutational Burden
  ☆63Updated 5 months ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆99Updated 3 years ago
• adnaniazi / tailfindr
  An R package for estimating poly(A)-tail lengths in Oxford Nanopore RNA and DNA reads.
  ☆55Updated last year