Alternatives and similar repositories for NPM-sample-qc

Users that are interested in NPM-sample-qc are comparing it to the libraries listed below

• ryanlayer / stix
  Structural Variant Index
  ☆75Updated last year
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆37Updated 2 weeks ago
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆107Updated 5 years ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆48Updated 5 years ago
• walaj / VariantBam
  Filtering and profiling of next-generational sequencing data using region-specific rules
  ☆79Updated 2 years ago
• kcleal / dysgu
  Toolkit for calling structural variants using short or long reads
  ☆115Updated 3 weeks ago
• svviz / svviz
  Read visualizer for structural variants
  ☆84Updated 7 years ago
• fakedrtom / SVAFotate
  ☆44Updated last year
• Illumina / Polaris
  Data and information about the Polaris study
  ☆54Updated 6 years ago
• PacificBiosciences / sv-benchmark
  Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data
  ☆51Updated 4 years ago
• dnanexus-archive / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆103Updated 5 years ago
• J35P312 / SVDB
  structural variant database software
  ☆47Updated 2 months ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆78Updated 3 weeks ago
• Illumina / SMNCopyNumberCaller
  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
  ☆50Updated 2 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.
  ☆76Updated 6 months ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆38Updated 9 years ago
• fritzsedlazeck / Spectre
  Copy number caller for long read data including SNV utilization
  ☆68Updated 9 months ago
• genomic-medicine-sweden / nallo
  An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.
  ☆40Updated last week
• 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
• ga4gh / quality-control-wgs
  GA4GH Quality Control of Whole Genome Sequencing's metrics definition, benchmark resources and reference implementations
  ☆20Updated last month
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆59Updated last year
• deaconjs / ThousandVariantCallersRepo
  Thousand Variant Callers Project Repository
  ☆74Updated 6 years ago
• rrazaghi / modbamtools
  Set of tools to manipulate and visualize modified base bam files
  ☆58Updated 3 years ago
• lh3 / CHM-eval
  ☆55Updated 5 years ago
• Illumina / RepeatCatalogs
  ☆22Updated 4 years ago
• human-pangenomics / hpgp-data
  Data from the Human PanGenomics Project
  ☆61Updated 4 years ago
• TimD1 / vcfdist
  vcfdist: Accurately benchmarking phased variant calls
  ☆85Updated 3 months ago
• HipSTR-Tool / HipSTR
  Genotype and phase short tandem repeats using Illumina whole-genome sequencing data
  ☆31Updated 4 years ago
• lh3 / bedtk
  A simple toolset for BED files (warning: CLI may change before bedtk becomes stable)
  ☆142Updated 4 months ago