Alternatives and similar repositories for SMAca:

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

• GeneDx / scramble
  ☆39Updated 9 months ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆60Updated last year
• girirajanlab / CN_Learn
  CN-Learn
  ☆29Updated 5 years ago
• niu-lab / msisensor-ct
  Microsatellite instability (MSI) detection for cfDNA samples.
  ☆18Updated 3 years ago
• Illumina / Gauchian
  A variant caller for the GBA gene using WGS data
  ☆21Updated 5 months ago
• bioinformatics-IBCH / Comparison-study-of-germline-CNV-calling-tools
  ☆16Updated 3 years ago
• RahmanTeam / DECoN
  ☆51Updated 2 years ago
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆32Updated 9 years ago
• sfu-compbio / sinvict
  SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA
  ☆27Updated 4 years ago
• ikalatskaya / ISOWN
  ☆45Updated 5 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆67Updated 4 months ago
• pughlab / ConsensusCruncher
  ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…
  ☆20Updated 2 years ago
• hall-lab / sv-pipeline
  Pipeline for structural variation detection in cohorts
  ☆49Updated 3 years ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆35Updated 8 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 9 months ago
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆24Updated 8 years ago
• findingdan / UPDio
  ☆15Updated last year
• cphgeno / CNVbench
  Benchmarking of CNV calling tools
  ☆18Updated 5 years ago
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆31Updated 2 months ago
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆56Updated 3 months ago
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated 11 months ago
• DecodeGenetics / svimmer
  Structural variant merging tool
  ☆49Updated 5 months 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
  ☆46Updated 4 years ago
• ryanlayer / stix
  Structural Variant Index
  ☆71Updated last month
• naumanjaved / fingerprint_maps
  Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…
  ☆26Updated last year
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆49Updated 6 months ago
• mchowdh200 / samplot-ml
  ☆22Updated 3 years ago
• chrisamiller / readDepth
  R package for inferring copy number from read depth
  ☆32Updated 2 years ago
• ken0-1n / Genomon-ITDetector
  for detecting internal tandem duplication from genome sequence data.
  ☆11Updated 5 years ago