Alternatives and similar repositories for DECoN

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

• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆72Updated 9 months ago
• GeneDx / scramble
  ☆39Updated last year
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆66Updated last year
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 years ago
• Kennedy-Lab-UW / Duplex-Seq-Pipeline
  A standalone end-to-end data analysis pipeline for Duplex Sequencing
  ☆20Updated last year
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆50Updated 10 months ago
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 8 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…
  ☆53Updated 4 years ago
• naumanjaved / fingerprint_maps
  Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…
  ☆28Updated last year
• tsy19900929 / snpeffToMaf
  Converts snpeff annotations into MAF
  ☆11Updated 10 months ago
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆59Updated 8 months ago
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆33Updated 9 years ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆53Updated 5 years ago
• nccl-jmli / VarBen
  ☆36Updated 4 years ago
• ikalatskaya / ISOWN
  ☆46Updated 5 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 3 years ago
• FoundationMedicineInc / SGZ
  ☆41Updated last year
• bahlolab / bioinfotools
  Documenting usage and experience with bioinformatic tools
  ☆40Updated 9 years ago
• VUmcCGP / wisecondor
  WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…
  ☆44Updated last year
• deepomicslab / SpecHLA
  SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …
  ☆46Updated 2 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.
  ☆70Updated 3 weeks ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆47Updated 5 years ago
• girirajanlab / CN_Learn
  CN-Learn
  ☆29Updated 5 years ago
• ENCODE-DCC / long-read-rna-pipeline
  ENCODE long read RNA-seq pipeline
  ☆48Updated 2 years ago
• pughlab / ConsensusCruncher
  ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…
  ☆21Updated 2 years ago
• niu-lab / msisensor-ct
  Microsatellite instability (MSI) detection for cfDNA samples.
  ☆19Updated 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…
  ☆80Updated 2 years ago
• hartwigmedical / pipeline5
  ☆21Updated 2 weeks ago
• Illumina / SMNCopyNumberCaller
  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
  ☆49Updated last year
• SyntekabioTools / HLAscan
  ☆25Updated 5 years ago