Alternatives and similar repositories for gens

Users that are interested in gens are comparing it to the libraries listed below

• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆32Updated 3 weeks ago
• Illumina / witty.er
  What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
  ☆32Updated last year
• fakedrtom / SVAFotate
  ☆40Updated 8 months ago
• ryanlayer / stix
  Structural Variant Index
  ☆74Updated 5 months ago
• GeneDx / scramble
  ☆39Updated last year
• J35P312 / SVDB
  structural variant database software
  ☆44Updated 7 months ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 years ago
• molgenis / vip
  Variant Interpretation Pipeline
  ☆39Updated this week
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆73Updated last month
• genomic-medicine-sweden / nallo
  An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.
  ☆30Updated 2 weeks ago
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆47Updated this week
• vembrane / vembrane
  vembrane filters VCF records using python expressions
  ☆58Updated this week
• bjhall / upd
  Basic UPD caller
  ☆11Updated 3 years ago
• vplagnol / ExomeDepth
  ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
  ☆69Updated 3 months ago
• tprodanov / parascopy
  Copy number estimation and variant calling for duplicated genes using WGS.
  ☆27Updated 2 weeks ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆47Updated 5 years ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆36Updated 8 years ago
• monarch-initiative / SvAnna
  Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
  ☆37Updated 11 months ago
• tobiasrausch / vc
  A tutorial on structural variant calling for short read sequencing data
  ☆38Updated 7 months ago
• genepi / haplocheck
  Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies
  ☆18Updated last year
• rdemolgen / SavvySuite
  Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
  ☆29Updated 10 months ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆65Updated last year
• PacificBiosciences / pbfusion
  ☆22Updated 2 weeks ago
• jbelyeu / SV-plaudit
  Pipeline for structural variant image curation and analysis.
  ☆48Updated 3 years ago
• kcleal / SV_Benchmark_CMRG_GIAB
  Structural variant benchmark
  ☆17Updated 3 months ago
• brwnj / covviz
  Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata
  ☆56Updated 3 years ago
• TimD1 / vcfdist
  vcfdist: Accurately benchmarking phased variant calls
  ☆80Updated last month
• tommyau / bamclipper
  Remove primer sequence from BAM alignments by soft-clipping
  ☆31Updated 5 years ago
• RahmanTeam / DECoN
  ☆53Updated 2 years ago
• ljdursi / mergevcf
  Python package and routines for merging VCF files
  ☆29Updated 4 years ago