kircherlab / CADD-SVLinks
CADD-SV – a framework to score the effect of structural variants
☆17Updated 2 weeks ago
Alternatives and similar repositories for CADD-SV
Users that are interested in CADD-SV are comparing it to the libraries listed below
Sorting:
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 9 months ago
- Immuological gene typing and annotation for genome assembly☆38Updated 9 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- ☆35Updated 4 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆34Updated 2 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- ☆51Updated 6 years ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Tools for merging Tandem Repeat VCF files☆37Updated 7 months ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- ☆44Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework☆41Updated 2 weeks ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- v2.x of the microassembly based somatic variant caller☆23Updated 5 months ago
- ☆26Updated 8 months ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated last year
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Pipeline for structural variant image curation and analysis.☆49Updated 4 years ago
- ☆24Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆13Updated 3 years ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆34Updated 2 years ago
- Structural variant (SV) analysis tools☆39Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- ☆15Updated last year
- Software to assemble contigs/scaffolds into chromosomes using Hi-C data☆28Updated last year
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago