Alternatives and similar repositories for PGxPOP

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

• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated last year
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated last week
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆69Updated 2 years ago
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆37Updated 4 months ago
• girirajanlab / CN_Learn
  CN-Learn
  ☆30Updated 5 years ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆54Updated 6 years ago
• sigven / gvanno
  Generic human DNA variant annotation pipeline
  ☆59Updated last year
• naumanjaved / fingerprint_maps
  Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…
  ☆28Updated last year
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆53Updated last year
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆77Updated 8 months ago
• Illumina / GTCtoVCF
  Script to convert GTC/BPM files to VCF
  ☆47Updated last month
• fakedrtom / SVAFotate
  ☆44Updated last year
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated 9 months ago
• nf-core / variantbenchmarking
  Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
  ☆36Updated last week
• Illumina / Gauchian
  A variant caller for the GBA gene using WGS data
  ☆23Updated last year
• theodorc / Atlas-CNV
  Method to detect exonic CNVs in NGS Gene Targeted Panels
  ☆16Updated 6 years ago
• talkowski-lab / svtk
  ☆35Updated 4 years ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆48Updated 5 years ago
• ImperialCardioGenetics / UTRannotator
  VEP Plugin to annotate high-impact five prime UTR variants
  ☆27Updated last year
• PapenfussLab / sv_benchmark
  Comprehensive benchmark of structural variant callers
  ☆48Updated 4 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆99Updated 3 years ago
• Illumina / witty.er
  What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
  ☆34Updated 2 years ago
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆107Updated 4 years ago
• a-xavier / tapes
  TAPES : a Tool for Assessment and Prioritisation in Exome Studies
  ☆25Updated 2 months ago
• deaconjs / ThousandVariantCallersRepo
  Thousand Variant Callers Project Repository
  ☆74Updated 6 years ago
• vpc-ccg / svict
  Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA
  ☆29Updated last year
• IARCbioinfo / BAM-tricks
  Tip and tricks for BAM files
  ☆86Updated 7 years ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆83Updated 2 years ago
• ferrannadeu / IgCaller
  Python program designed to reconstruct immunoglobulin gene rearrangements and oncogenic translocations from WGS, WES and capture NGS in l…
  ☆20Updated 2 years ago