Alternatives and similar repositories for CNest:

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

• rdemolgen / SavvySuite
  Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
  ☆28Updated 9 months ago
• HurlesGroupSanger / indelible
  Structural Variation breakpoint discovery via adaptive learning
  ☆15Updated last year
• kircherlab / CADD-SV
  CADD-SV – a framework to score the effect of structural variants
  ☆14Updated last month
• HurlesGroupSanger / DeNovoWEST
  ☆21Updated last week
• griffithlab / VAtools
  A set of tools to annotate VCF files with expression and readcount data
  ☆29Updated last month
• HudsonAlpha / CSL_public_benchmark
  Location of public benchmarking; primarily final results
  ☆18Updated 2 months ago
• mskilab-org / gGnome
  R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework
  ☆40Updated last week
• broadinstitute / gnomad-mitochondria
  ☆13Updated last year
• KolmogorovLab / minda
  ☆16Updated this week
• talkowski-lab / rCNV2
  Aggregation and analyses of rare CNVs across diseases
  ☆14Updated 2 years ago
• CCICB / introme
  Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation
  ☆21Updated last month
• rbundschuh / SMaSH
  A tool for sample swap identification in high throughput sequencing studies
  ☆10Updated last month
• YingZhou001 / Immuannot
  Immuological gene typing and annotation for genome assembly
  ☆35Updated last month
• PacificBiosciences / svpack
  Structural variant (SV) analysis tools
  ☆36Updated 9 months ago
• cortes-ciriano-lab / ReConPlot
  ☆22Updated 4 months ago
• czc / nb_distribution
  novoBreak: local assembly for breakpoint detection in cancer genomes
  ☆26Updated 6 years ago
• fulcrumgenomics / fgsv
  Tools to gather evidence for structural variation via breakpoint detection.
  ☆19Updated last week
• nygenome / Lancet2
  v2.x of the microassembly based somatic variant caller
  ☆20Updated 3 weeks ago
• jeremymcrae / clinical-filter
  filtering trio-based genetic variants in VCFs for clinical review
  ☆21Updated 4 years ago
• Oshlack / MINTIE
  Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.
  ☆35Updated 9 months ago
• Illumina / Gauchian
  A variant caller for the GBA gene using WGS data
  ☆21Updated 8 months ago
• monarch-initiative / Squirls
  Interpretable prioritization of splice variants in diagnostic next-generation sequencing
  ☆16Updated 11 months 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
• genepi / haplocheck
  Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies
  ☆18Updated last year
• vpc-ccg / svict
  Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA
  ☆27Updated 10 months ago
• genomics-dev / wecall
  Fast, accurate and simple to use command line tool for variant detection in NGS data.
  ☆10Updated 5 years ago
• gzhmat / ShinyCNV
  a Shiny/R application to view and annotate copy number variations
  ☆28Updated 2 years ago
• kcleal / SV_Benchmark_CMRG_GIAB
  Structural variant benchmark
  ☆17Updated last month
• talkowski-lab / gnomad-sv-pipeline
  Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)
  ☆36Updated 4 years ago
• Sentieon / sentieon-models
  Model files for Sentieon variant callers
  ☆14Updated last week