0xTCG / aldy

Related projects: ⓘ

• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆94Updated 2 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆73Updated 5 years ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆29Updated 4 months ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆52Updated 4 years ago
• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆71Updated 3 months ago
• svviz / svviz
  Read visualizer for structural variants
  ☆80Updated 6 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…
  ☆75Updated last year
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆60Updated last year
• human-pangenomics / hpgp-data
  Data from the Human PanGenomics Project
  ☆60Updated 3 years ago
• Illumina / Cyrius
  A tool to genotype CYP2D6 with WGS data
  ☆46Updated 11 months ago
• Griffan / VerifyBamID
  VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.
  ☆92Updated 4 months ago
• mquinodo / AutoMap
  Tool to find regions of homozygosity (ROHs) from sequencing data.
  ☆26Updated 3 months ago
• GeneDx / scramble
  ☆35Updated 4 months ago
• ryanlayer / stix
  Structural Variant Index
  ☆66Updated 5 months 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…
  ☆24Updated 8 months ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆42Updated 6 months ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆64Updated 2 weeks ago
• imgag / megSAP
  a Medical Genetics Sequence Analysis Pipeline
  ☆69Updated this week
• Illumina / REViewer
  A tool for visualizing alignments of reads in regions containing tandem repeats
  ☆76Updated 9 months ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆74Updated 7 months ago
• broadinstitute / SpliceAI-lookup
  Website for checking SpliceAI and Pangolin scores:
  ☆18Updated this week
• cc2qe / vawk
  An awk-like VCF parser
  ☆54Updated 8 months ago
• milkschen / leviosam2
  Fast and accurate coordinate conversion between assemblies
  ☆106Updated 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.
  ☆63Updated last year
• sigven / gvanno
  Generic human DNA variant annotation pipeline
  ☆55Updated 7 months ago
• brentp / duphold
  don't get DUP'ed or DEL'ed by your putative SVs.
  ☆100Updated 3 years ago
• rhshah / IMPACT-Pipeline
  Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay
  ☆55Updated 3 years ago
• liguowang / CrossMap
  CrossMap is a python program to lift over genome coordinates from one genome version to another.
  ☆73Updated last month
• 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…
  ☆50Updated 3 years ago
• zstephens / neat-genreads
  NEAT read simulation tools
  ☆95Updated 2 years ago