CCICB / intromeLinks
Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation
☆21Updated last week
Alternatives and similar repositories for introme
Users that are interested in introme are comparing it to the libraries listed below
Sorting:
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆13Updated 3 years ago
- Immuological gene typing and annotation for genome assembly☆38Updated 9 months ago
- ☆20Updated 2 years ago
- ☆23Updated 5 months ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Updated last month
- Structural variant VCF annotation, duplicate removal and comparison☆34Updated 2 months ago
- Genotyping of segregating mobile elements insertions☆19Updated 4 years ago
- Structural variant benchmark☆21Updated 9 months ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- ☆24Updated last year
- A long-read analysis toolbox for cancer and population genomics☆23Updated 5 months ago
- Tools for merging Tandem Repeat VCF files☆37Updated 8 months ago
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago
- ☆26Updated 8 months ago
- A method for measuring chromosome-specific telomere length from long reads☆22Updated last year
- Integrative analysis of complex structural variants☆22Updated 5 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated last year
- Structural variant (SV) analysis tools☆39Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- A tool to extract LOH blocks from VCF, BAM and FASTA data☆25Updated last year
- Sample Contamination Estimate from VCF☆20Updated last year
- Location of public benchmarking; primarily final results☆18Updated 10 months ago
- ☆20Updated 3 years ago
- ☆33Updated 3 years ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆24Updated 2 years ago
- ☆15Updated last year
- ☆38Updated last year
- Rapid and accurate ancestry inference using SNVs.☆28Updated 4 months ago
- CADD-SV – a framework to score the effect of structural variants☆17Updated 3 weeks ago