Alternatives and similar repositories for autocnv

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

• JiguangPeng / autopvs1
  An automatic classification tool for PVS1 interpretation of null variants
  ☆43Updated last year
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 9 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆70Updated 2 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• genome-in-a-bottle / genome-stratifications
  Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…
  ☆83Updated 3 years ago
• RahmanTeam / DECoN
  ☆54Updated 3 years ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆84Updated 2 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆99Updated 3 years ago
• Griffan / VerifyBamID
  VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.
  ☆99Updated last year
• broadinstitute / SpliceAI-lookup
  Website for checking a variant's SpliceAI, Pangolin, and other scores:
  ☆27Updated 2 weeks ago
• Sentieon / sentieon-scripts
  Helper scripts for biological data processing from Sentieon
  ☆64Updated this week
• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆91Updated 4 months ago
• fredsanto / coverageMaster
  ☆12Updated last year
• Illumina / Polaris
  Data and information about the Polaris study
  ☆55Updated 6 years ago
• tsy19900929 / snpeffToMaf
  Converts snpeff annotations into MAF
  ☆11Updated last year
• dnanexus-archive / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆103Updated 5 years ago
• svviz / svviz
  Read visualizer for structural variants
  ☆84Updated 7 years ago
• gymreklab / GangSTR
  A tool for profiling long STRs from short reads
  ☆104Updated 4 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 months ago
• mquinodo / AutoMap
  Tool to find regions of homozygosity (ROHs) from sequencing data.
  ☆35Updated last year
• findingdan / UPDio
  ☆14Updated 2 years ago
• kcleal / dysgu
  Toolkit for calling structural variants using short or long reads
  ☆115Updated this week
• LBGC-CFB / SPiP
  Splicing Prediction Pipeline
  ☆15Updated 2 years ago
• genome / breakdancer
  SV detection from paired end reads mapping
  ☆118Updated 6 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆75Updated 6 years ago
• mobidic / update_annovar_db
  scripts to automatically update ANNOVAR db
  ☆18Updated 4 years ago
• imgag / megSAP
  a Medical Genetics Sequence Analysis Pipeline
  ☆86Updated this week
• Genome-Bioinformatics-RadboudUMC / DeNovoCNN
  A deep learning approach to de novo variant calling in next generation sequencing data
  ☆21Updated last week
• parklab / xTea
  Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics
  ☆118Updated 6 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.
  ☆77Updated 7 months ago