SACGF / cdot
Transcript versions for HGVS libraries
☆30Updated 3 months ago
Alternatives and similar repositories for cdot:
Users that are interested in cdot are comparing it to the libraries listed below
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆46Updated this week
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year
- TIDDIT - structural variant calling☆73Updated last week
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆62Updated last year
- ☆39Updated 11 months ago
- (WIP) best-practices workflow for rare disease☆60Updated 9 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
- Detection of CNVs (deletion/duplication) in target panel based NGS data☆16Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- Structural Variant Index☆72Updated 4 months ago
- CNV screening and annotation tool☆25Updated 8 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated last month
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 2 months ago
- Variant Interpretation Pipeline☆25Updated this week
- Data and information about the Polaris study☆53Updated 5 years ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆51Updated 5 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Toolkit for calling structural variants using short or long reads☆102Updated this week
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 4 years ago
- Structural Variant Prediction Viewer☆34Updated 7 years ago
- ☆39Updated 7 months ago
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆65Updated 2 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- Thousand Variant Callers Project Repository☆72Updated 5 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 5 years ago
- ☆12Updated 9 months ago
- Data from the Human PanGenomics Project☆60Updated 3 years ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆66Updated this week
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆68Updated 7 months ago