genome-in-a-bottle / giab_data_analysis
This repository contains information about ongoing analysis performed by GIAB
☆14Updated 5 years ago
Alternatives and similar repositories for giab_data_analysis:
Users that are interested in giab_data_analysis are comparing it to the libraries listed below
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 9 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- ☆11Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- Benchmark pipeline for Structural Variation analyses, funded by the ALLBio.☆24Updated 10 years ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆30Updated 3 weeks ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 9 months ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- Structural Variant Prediction Viewer☆34Updated 7 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Accurate Typing of Human Leukocyte Antigen (HLA) by Oxford Nanopore Sequencing☆15Updated 7 years ago
- 🍶 Genome assembly with short sequence reads☆25Updated last year
- ☆51Updated 5 years ago
- Exact Tandem Repeat Finder (not a TRF replacement)☆48Updated 5 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago