Alternatives and similar repositories for Polaris:

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

• GeneDx / scramble
  ☆39Updated last year
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆69Updated 8 months ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆62Updated last year
• walaj / VariantBam
  Filtering and profiling of next-generational sequencing data using region-specific rules
  ☆77Updated last year
• ryanlayer / stix
  Structural Variant Index
  ☆72Updated 4 months ago
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆105Updated 4 years ago
• 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…
  ☆79Updated 2 years ago
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 8 years ago
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆32Updated 2 months ago
• RahmanTeam / DECoN
  ☆53Updated 2 years ago
• PacificBiosciences / sv-benchmark
  Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data
  ☆51Updated 4 years ago
• geocarvalho / sv-cnv-studies
  Relevant papers for CNV and SV approaches
  ☆94Updated 6 months ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 2 years ago
• Illumina / SMNCopyNumberCaller
  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
  ☆49Updated last year
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆47Updated 4 years ago
• mquinodo / AutoMap
  Tool to find regions of homozygosity (ROHs) from sequencing data.
  ☆33Updated 10 months ago
• deaconjs / ThousandVariantCallersRepo
  Thousand Variant Callers Project Repository
  ☆72Updated 5 years ago
• gatk-workflows / gatk4-exome-analysis-pipeline
  This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…
  ☆52Updated 4 years ago
• Illumina / RepeatCatalogs
  ☆21Updated 3 years ago
• ENCODE-DCC / long-read-rna-pipeline
  ENCODE long read RNA-seq pipeline
  ☆47Updated 2 years ago
• svviz / svviz
  Read visualizer for structural variants
  ☆83Updated 6 years ago
• cc2qe / vawk
  An awk-like VCF parser
  ☆56Updated last year
• bioinform / metasv
  MetaSV: An accurate and integrative structural-variant caller for next generation sequencing
  ☆55Updated 7 years ago
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated last year
• gymreklab / GangSTR
  A tool for profiling long STRs from short reads
  ☆97Updated 4 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆74Updated 5 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆22Updated last year
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated 2 months ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆36Updated 8 years ago
• parklab / xTea
  Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics
  ☆110Updated 2 weeks ago