ltnetcase / BedAnno
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
☆19Updated last year
Related projects ⓘ
Alternatives and complementary repositories for BedAnno
- CNV screening and annotation tool☆24Updated 8 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- ☆50Updated last year
- ☆36Updated 7 months ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆50Updated 4 years ago
- ☆35Updated 3 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆66Updated 2 months ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆54Updated 7 years ago
- Read visualizer for structural variants☆81Updated 6 years ago
- ☆38Updated 9 months ago
- Documenting usage and experience with bioinformatic tools☆40Updated 9 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- A tool for profiling long STRs from short reads☆88Updated 3 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆18Updated 3 years ago
- My collection of light bioinformatics analysis pipelines for specific tasks☆71Updated 6 months ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆28Updated 5 months ago
- TIDDIT - structural variant calling☆69Updated this week
- ☆78Updated 10 years ago
- Structural Variant Index☆70Updated this week
- An automatic classification tool for PVS1 interpretation of null variants☆35Updated 8 months ago
- Pipeline for annotating genomes using long read transcriptomics data with pinfish☆27Updated 3 years ago
- Data and information about the Polaris study☆52Updated 5 years ago
- ☆45Updated 5 years ago
- Splicing Prediction Pipeline☆13Updated last year
- R package for inferring copy number from read depth☆31Updated 2 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- ☆23Updated 3 months ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆76Updated 4 years ago
- ABRA2☆91Updated last year
- Snakemake-based workflow for detecting structural variants in genomic data☆77Updated 9 months ago