WGLab / PhenoSVLinks
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
☆17Updated 8 months ago
Alternatives and similar repositories for PhenoSV
Users that are interested in PhenoSV are comparing it to the libraries listed below
Sorting:
- Structural variant (SV) analysis tools☆38Updated last year
- Structural variant merging tool☆55Updated last year
- Immuological gene typing and annotation for genome assembly☆38Updated 7 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆38Updated last year
- POSTRE: Prediction Of STRuctural variant Effects☆28Updated 7 months ago
- SAMStat displays various properties of next-generation sequencing reads stored in SAM/BAM format.☆24Updated 2 years ago
- ☆33Updated 2 years ago
- Easy genomic regions for short-read variant calling☆44Updated last month
- Genotyping of segregating mobile elements insertions☆19Updated 4 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆34Updated this week
- Tools for merging Tandem Repeat VCF files☆34Updated 5 months ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Updated last year
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆36Updated 5 months ago
- ☆13Updated 3 years ago
- Scripts and utilities related to analyzing short tandem repeats (STRs).☆39Updated 3 weeks ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆52Updated 7 months ago
- Automated Detection and Qualification of Differential Methylation☆14Updated last year
- Working space for the GIAB TR benchmarking project☆22Updated 11 months ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆23Updated 2 years ago
- ☆16Updated 9 months ago
- This tools counts the number of specific k-mers within sequence data. The counts can then be compare to other counts to determine to comp…☆30Updated 10 months ago
- ☆35Updated last year
- Haplotype and population structure inference using neural networks.☆27Updated 10 months ago
- ☆18Updated last year
- Enabling differential allele-specific analysis☆11Updated 9 months ago
- An insertion caller for Illumina paired-end WGS data.☆23Updated last month
- Kmer Analysis of Pileups for Genotyping☆32Updated last week
- MethPhaser: methylation-based haplotype phasing of human genomes☆49Updated 7 months ago
- Scoring GT/AG sites for improving spliced alignment☆46Updated 3 weeks ago
- Pipeline for scaffolding and breaking a genome assembly using 10x genomics linked-reads☆21Updated 3 years ago