andrewSharo / StrVCTVRE
StrVCTVRE, a structural variant classifier for exonic deletions and duplications
☆18Updated 11 months ago
Related projects ⓘ
Alternatives and complementary repositories for StrVCTVRE
- Variant annotation and merging pipeline☆29Updated 3 weeks ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- A new tool to infer sex from massively parallel sequencing data.☆15Updated 5 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆24Updated 6 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆33Updated 4 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆29Updated last year
- A module for improving the insertion sequences of structural variant calls☆29Updated 3 years ago
- Tumour-only somatic mutation calling using long reads☆24Updated 3 weeks ago
- Structural variant caller☆54Updated 2 years ago
- SV genotyping with long reads☆40Updated last year
- ☆39Updated 2 months ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆20Updated last year
- Working space for the GIAB TR benchmarking project☆20Updated 3 weeks ago
- A VCF comparison engine for structual variant benchmarking☆19Updated 7 months ago
- Population-wide Deletion Calling☆35Updated 2 months ago
- ☆26Updated 3 months ago
- ☆46Updated 4 months ago
- ☆31Updated 4 years ago
- ☆13Updated last month
- TideHunter: efficient and sensitive tandem repeat detection from noisy long reads using seed-and-chain☆19Updated 5 months ago
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- Identification of segmental duplications in the genome☆26Updated 2 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆48Updated 3 years ago
- ☆30Updated 2 weeks ago
- Detection and genotyping of structural variants☆17Updated 3 weeks ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆48Updated last month
- 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
- somatic SV calling on matched tumor-normal co-assembly graphs☆18Updated 3 months ago