Illumina / gvcfgenotyper
A utility for merging and genotyping Illumina-style GVCFs.
☆33Updated 6 years ago
Alternatives and similar repositories for gvcfgenotyper:
Users that are interested in gvcfgenotyper are comparing it to the libraries listed below
- ☆21Updated 3 weeks ago
- Location of public benchmarking; primarily final results☆18Updated last month
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 9 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Evaluation of phasing performance☆22Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- ☆35Updated 4 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 8 months ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 weeks ago
- R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework☆39Updated this week
- Structural variant (SV) analysis tools☆36Updated 9 months ago
- Population-wide Deletion Calling☆35Updated 6 months ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆36Updated last month
- Sample Contamination Estimate from VCF☆19Updated 4 months ago
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- CADD-SV – a framework to score the effect of structural variants☆14Updated 2 weeks ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆30Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Structural Variant Prediction Viewer☆34Updated 7 years ago