Alternatives and similar repositories for NPM-sample-qc

Users that are interested in NPM-sample-qc 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
  ☆37Updated 4 months ago
• ryanlayer / stix
  Structural Variant Index
  ☆75Updated 11 months ago
• fakedrtom / SVAFotate
  ☆44Updated last year
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆107Updated 4 years ago
• walaj / VariantBam
  Filtering and profiling of next-generational sequencing data using region-specific rules
  ☆79Updated 2 years ago
• svviz / svviz
  Read visualizer for structural variants
  ☆84Updated 7 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆48Updated 5 years ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆54Updated 6 years ago
• kcleal / dysgu
  Toolkit for calling structural variants using short or long reads
  ☆113Updated 2 months ago
• vplagnol / ExomeDepth
  ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
  ☆76Updated 5 months ago
• J35P312 / SVDB
  structural variant database software
  ☆47Updated last month
• dnanexus-archive / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆103Updated 5 years ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆38Updated 9 years ago
• ga4gh / quality-control-wgs
  GA4GH Quality Control of Whole Genome Sequencing's metrics definition, benchmark resources and reference implementations
  ☆20Updated 2 weeks ago
• Illumina / RepeatCatalogs
  ☆21Updated 4 years ago
• fritzsedlazeck / Spectre
  Copy number caller for long read data including SNV utilization
  ☆68Updated 8 months ago
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆77Updated 8 months ago
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆58Updated last year
• deaconjs / ThousandVariantCallersRepo
  Thousand Variant Callers Project Repository
  ☆74Updated 6 years ago
• MeHelmy / princess
  ☆83Updated 9 months ago
• mchowdh200 / samplot-ml
  ☆22Updated 4 years ago
• dantaki / SV2
  Support Vector Structural Variation Genotyper
  ☆58Updated 5 years ago
• Illumina / SMNCopyNumberCaller
  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
  ☆50Updated 2 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 3 years ago
• PacificBiosciences / pb-human-wgs-workflow-snakemake
  DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads
  ☆39Updated 2 years ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated 9 months ago
• mroosmalen / nanosv
  SV caller for nanopore data
  ☆92Updated 5 years ago
• genomic-medicine-sweden / nallo
  An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.
  ☆39Updated last week
• TimD1 / vcfdist
  vcfdist: Accurately benchmarking phased variant calls
  ☆84Updated 2 months ago