Illumina / GauchianLinks
A variant caller for the GBA gene using WGS data
☆23Updated last year
Alternatives and similar repositories for Gauchian
Users that are interested in Gauchian are comparing it to the libraries listed below
Sorting:
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated last month
- ☆44Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated 3 weeks ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Updated 8 months ago
- ☆51Updated 6 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- ☆26Updated 8 months ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 7 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- ☆83Updated 10 months ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Updated last month
- Variant annotation and merging pipeline☆41Updated 5 months ago
- ☆35Updated 4 years ago
- Fast and scalable variant annotation tool☆30Updated 3 years ago
- Structural variant (SV) analysis tools☆39Updated last year
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Updated 2 years ago
- Structural variant caller☆55Updated 4 years ago
- Structural variant merging tool☆57Updated last year
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Set of tools to manipulate and visualize modified base bam files☆58Updated 3 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆31Updated 4 years ago
- Sample Contamination Estimate from VCF☆20Updated last year
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆53Updated 10 months ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 3 years ago
- Detect novel (and reference) STR expansions from short-read data☆70Updated last month