LalResearchGroup / CNV-clinviewer

Related projects ⓘ

Alternatives and complementary repositories for CNV-clinviewer

• genepi / haplocheck
  Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies
  ☆16Updated last year
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆22Updated last year
• TheJacksonLaboratory / SVE
  ☆51Updated 5 years ago
• rdemolgen / SavvySuite
  Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
  ☆27Updated 4 months 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
• liusihan / seGMM
  A new tool to infer sex from massively parallel sequencing data.
  ☆15Updated 5 months 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
• monarch-initiative / SvAnna
  Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
  ☆33Updated 4 months ago
• Illumina / Gauchian
  A variant caller for the GBA gene using WGS data
  ☆21Updated 3 months ago
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆46Updated 4 years ago
• bioinformatics-IBCH / Comparison-study-of-germline-CNV-calling-tools
  ☆16Updated 3 years ago
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆35Updated 8 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆60Updated last year
• niu-lab / msisensor-ct
  Microsatellite instability (MSI) detection for cfDNA samples.
  ☆18Updated 3 years ago
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated 8 months ago
• nspies / svviz2
  for visual evaluation of read support for structural variation
  ☆50Updated 5 months ago
• DecodeGenetics / svimmer
  Structural variant merging tool
  ☆45Updated 2 months ago
• tommyau / bamclipper
  Remove primer sequence from BAM alignments by soft-clipping
  ☆31Updated 4 years ago
• deepomicslab / SpecHLA
  SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …
  ☆37Updated last month
• dooguypapua / eKLIPse
  a tool for predicting mitochondrial DNA deletions using soft-clipping
  ☆21Updated 2 years ago
• bcbio / bcbio_validations
  Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses
  ☆31Updated 2 years ago
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆45Updated this week
• vpc-ccg / svict
  Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA
  ☆25Updated 5 months ago
• hall-lab / sv-pipeline
  Pipeline for structural variation detection in cohorts
  ☆48Updated 3 years ago
• mskcc / lohhla
  Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs
  ☆29Updated last year
• pughlab / fragmentomics
  Collection of fragmentomic analysis scripts
  ☆10Updated 4 months ago
• HurlesGroupSanger / indelible
  Structural Variation breakpoint discovery via adaptive learning
  ☆15Updated last year
• dermasugita / Viola-SV
  Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.
  ☆26Updated 3 months ago
• mccoy-lab / LD-PGTA
  Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…
  ☆16Updated 2 years ago