SACGF / cdot
Transcript versions for HGVS libraries
☆29Updated last month
Related projects ⓘ
Alternatives and complementary repositories for cdot
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated 2 weeks ago
- Snakemake-based workflow for detecting structural variants in genomic data☆77Updated 8 months ago
- TIDDIT - structural variant calling☆69Updated 3 months ago
- A false-positive filter for variants called from massively parallel sequencing☆29Updated 7 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated 8 months ago
- ☆36Updated 6 months ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆54Updated 7 years ago
- for visual evaluation of read support for structural variation☆49Updated 5 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 4 years ago
- Genome-wide reconstruction of complex structural variants☆39Updated 2 years ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆62Updated 3 months ago
- Generic human DNA variant annotation pipeline☆56Updated 8 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆30Updated this week
- Data and information about the Polaris study☆52Updated 4 years ago
- Basic UPD caller☆11Updated 3 years ago
- Structural Variant Index☆69Updated last week
- Workflows for converting between sequence data formats☆37Updated 3 years ago
- Wally: Visualization of aligned sequencing reads and contigs☆108Updated last month
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆65Updated last year
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆29Updated last year
- An awk-like VCF parser☆54Updated 10 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Powerful statistics for VCF files☆64Updated last year
- Toolkit for calling structural variants using short or long reads☆95Updated 2 weeks ago
- an empirical Bayesian framework for mutation detection from cancer genome sequencing data☆31Updated 8 years ago
- Burden testing against public controls☆50Updated 8 months ago
- Variant calling tool for long-read sequencing data☆100Updated 5 months ago
- SV caller for nanopore data☆90Updated 4 years ago
- ☆12Updated 3 months ago