Alternatives and similar repositories for megSAP

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

• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆85Updated 4 months ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆82Updated last year
• gencorefacility / variant-calling-pipeline-gatk4
  Variant Calling Pipeline Using GATK4 and Nextflow
  ☆56Updated 2 years ago
• Griffan / VerifyBamID
  VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.
  ☆97Updated last year
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆72Updated 9 months ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 3 years ago
• Sentieon / sentieon-scripts
  Helper scripts for biological data processing from Sentieon
  ☆64Updated 8 months ago
• gatk-workflows / seq-format-conversion
  Workflows for converting between sequence data formats
  ☆38Updated 3 years ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆53Updated 5 years ago
• BoevaLab / FREEC
  Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data
  ☆162Updated 10 months ago
• molgenis / NIPTeR
  R Package for Non Invasive Prenatal Testing (NIPT) analysis
  ☆41Updated 5 years ago
• secastel / phaser
  phasing and Allele Specific Expression from RNA-seq
  ☆115Updated 11 months ago
• tderrien / FEELnc
  FEELnc : FlExible Extraction of LncRNA
  ☆87Updated 9 months ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated 4 months ago
• kircherlab / CADD-scripts
  CADD scripts release for offline scoring. For more information about CADD, please visit our website
  ☆82Updated last month
• broadinstitute / gatk-sv
  A structural variation pipeline for short-read sequencing
  ☆189Updated this week
• CenterForMedicalGeneticsGhent / WisecondorX
  WisecondorX — An evolved WISECONDOR
  ☆98Updated 9 months 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…
  ☆80Updated 2 years ago
• sbslee / pypgx
  A Python package for pharmacogenomics (PGx) research
  ☆74Updated 4 months ago
• ding-lab / CharGer
  Characterization of Germline variants
  ☆98Updated 3 years ago
• parklab / NGSCheckMate
  Software program for checking sample matching for NGS data
  ☆132Updated last year
• PacificBiosciences / barcoding
  Lima - Demultiplex Barcoded PacBio Samples
  ☆67Updated last month
• dnanexus-archive / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆102Updated 4 years ago
• IARCbioinfo / BAM-tricks
  Tip and tricks for BAM files
  ☆85Updated 6 years ago
• mkirsche / Jasmine
  Jasmine: SV Merging Across Samples
  ☆216Updated 6 months ago
• gymreklab / GangSTR
  A tool for profiling long STRs from short reads
  ☆97Updated 4 years ago
• PacificBiosciences / pbsv
  pbsv - PacBio structural variant (SV) calling and analysis tools
  ☆153Updated 4 months ago
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆106Updated 4 years ago
• hall-lab / svtools
  Tools for processing and analyzing structural variants.
  ☆152Updated 3 years ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated last month