Alternatives and similar repositories for rare-disease-wf:

Users that are interested in rare-disease-wf are comparing it to the libraries listed below

• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆45Updated this week
• bioinform / metasv
  MetaSV: An accurate and integrative structural-variant caller for next generation sequencing
  ☆55Updated 7 years ago
• tk2 / RetroSeq
  RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…
  ☆65Updated 2 years 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
  ☆39Updated 6 months ago
• TheJacksonLaboratory / SVE
  ☆51Updated 5 years ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated last month
• HudsonAlpha / CSL_public_benchmark
  Location of public benchmarking; primarily final results
  ☆18Updated last month
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆74Updated 2 weeks ago
• brentp / fraguracy
  overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites
  ☆33Updated last month
• PacificBiosciences / svpack
  Structural variant (SV) analysis tools
  ☆36Updated 9 months ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆47Updated 4 years ago
• nanoporegenomics / napu_wf
  WDL workflows for variant calling and assembly using ONT
  ☆33Updated last week
• wdecoster / nano-snakemake
  A snakemake pipeline for SV analysis from nanopore genome sequencing
  ☆51Updated 5 years ago
• molgenis / vip
  Variant Interpretation Pipeline
  ☆24Updated this week
• lganel / SVScore
  Prioritize structural variants based on CADD scores
  ☆29Updated 4 years ago
• lh3 / sdust
  Symmetric DUST for finding low-complexity regions in DNA sequences
  ☆37Updated last year
• grocsvs / grocsvs
  Genome-wide reconstruction of complex structural variants
  ☆39Updated 2 years ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆36Updated 8 years ago
• jeremymcrae / clinical-filter
  filtering trio-based genetic variants in VCFs for clinical review
  ☆21Updated 4 years ago
• VCCRI / SVPV
  Structural Variant Prediction Viewer
  ☆34Updated 7 years ago
• PacificBiosciences / pbfusion
  ☆20Updated 3 months ago
• YingZhou001 / Immuannot
  Immuological gene typing and annotation for genome assembly
  ☆35Updated 2 weeks ago
• ChristopherWilks / megadepth
  BigWig and BAM utilities
  ☆95Updated last year
• ksahlin / ultra
  Long-read splice alignment with high accuracy
  ☆62Updated 6 months ago
• mobidic / knotAnnotSV
  A simple script to create a customizable html file from an AnnotSV output.
  ☆18Updated 10 months ago
• talkowski-lab / svtk
  ☆35Updated 4 years ago
• rdemolgen / SavvySuite
  Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
  ☆28Updated 8 months ago
• genepi / haplocheck
  Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies
  ☆18Updated last year
• mskilab-org / gGnome
  R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework
  ☆39Updated this week