Alternatives and similar repositories for SMAca

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

• RahmanTeam / DECoN
  ☆54Updated 2 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• girirajanlab / CN_Learn
  CN-Learn
  ☆30Updated 5 years ago
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated last year
• pughlab / ConsensusCruncher
  ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…
  ☆21Updated 3 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆69Updated 2 years ago
• Illumina / Gauchian
  A variant caller for the GBA gene using WGS data
  ☆23Updated last year
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆53Updated last year
• Illumina / SMNCopyNumberCaller
  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
  ☆50Updated 2 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…
  ☆47Updated last year
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆34Updated 10 years ago
• bioinformatics-IBCH / Comparison-study-of-germline-CNV-calling-tools
  ☆16Updated 4 years ago
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆37Updated 4 months ago
• ikalatskaya / ISOWN
  ☆46Updated 6 years ago
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆58Updated last year
• PapenfussLab / sv_benchmark
  Comprehensive benchmark of structural variant callers
  ☆48Updated 4 years ago
• niu-lab / msisensor-ct
  Microsatellite instability (MSI) detection for cfDNA samples.
  ☆20Updated 4 years ago
• VUmcCGP / sanefalcon
  SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…
  ☆14Updated 5 years ago
• liusihan / seGMM
  A new tool to infer sex from massively parallel sequencing data.
  ☆17Updated 6 months ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆54Updated 6 years ago
• rdemolgen / SavvySuite
  Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
  ☆31Updated 3 months ago
• sfu-compbio / sinvict
  SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA
  ☆27Updated 5 years ago
• molgenis / NIPTeR
  R Package for Non Invasive Prenatal Testing (NIPT) analysis
  ☆43Updated 6 years ago
• fakedrtom / SVAFotate
  ☆44Updated last year
• walaj / VariantBam
  Filtering and profiling of next-generational sequencing data using region-specific rules
  ☆79Updated 2 years ago
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆77Updated 8 months 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…
  ☆55Updated 5 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
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆48Updated 5 years ago
• bcgsc / HLAminer
  ⛏ HLA predictions from NGS shotgun data
  ☆55Updated 6 months ago