genome-in-a-bottle / giab_data_analysis
This repository contains information about ongoing analysis performed by GIAB
☆13Updated 5 years ago
Related projects ⓘ
Alternatives and complementary repositories for giab_data_analysis
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 5 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- Exact Tandem Repeat Finder (not a TRF replacement)☆45Updated 5 years ago
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- Specific Transposable Element Aligner (HERV-K)☆16Updated 5 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆24Updated 9 years ago
- Structural Variant Prediction Viewer☆31Updated 7 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 10 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- Sample Contamination Estimate from VCF☆19Updated this week
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing☆40Updated 5 years ago
- Phase reads, assemble haplotypes and detect SVs☆19Updated 3 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Pipeline code for creating a fully haplotype-resolved assembly from a combination of PacBio/ONT long reads and Illumina Strand-seq data☆15Updated 7 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- Evaluation of phasing performance☆21Updated 6 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 4 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆36Updated last month
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- A new tool to infer sex from massively parallel sequencing data.☆15Updated 5 months ago
- Graphite - Graph-based variant adjudication☆28Updated 3 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆27Updated last month
- Master of Pores 2☆23Updated last year