Phillip-a-richmond / AnnotateVariantsLinks
This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions for software installs.
☆18Updated 2 years ago
Alternatives and similar repositories for AnnotateVariants
Users that are interested in AnnotateVariants are comparing it to the libraries listed below
Sorting:
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- ☆26Updated last year
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- RNA-seq workflow: differential transcript usage☆23Updated 2 years ago
- A repository containing various scripts useful for performing quality control on data from genome-wide association studies and visualizin…☆20Updated 8 years ago
- Readme☆10Updated 5 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Updated 10 months ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 6 years ago
- ☆35Updated 4 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- ☆24Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- QDNAseq.hg38: QDNAseq bin annotation for the human genome build hg38☆17Updated 3 weeks ago
- Mapped QC analysis program☆44Updated 7 years ago
- Python program designed to reconstruct immunoglobulin gene rearrangements and oncogenic translocations from WGS, WES and capture NGS in l…☆20Updated 2 years ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆37Updated last year
- A tool to plot significant regions of GWAS☆29Updated 2 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- ☆39Updated 4 years ago
- Snakemake workflow for Illumina RNA-sequencing experiments - extract population genomic signals from RNA-Seq data☆18Updated 9 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- ☆33Updated 3 years ago
- Genomic Association Tester☆35Updated 2 years ago
- DRAGEN Tumor/Normal workflow post-processing☆25Updated 2 years ago
- Burden testing against public controls☆50Updated last year
- A collection of tools to deal with Bisulfite-seq/NOMe-seq (SNP/Methylation calling: BisSNP; HMM segmentation: DMNTools; Visualization/Clu…☆32Updated 4 years ago
- ☆44Updated last year
- ☆46Updated 6 years ago
- Tool for parsing outputs from fusion detection tools. Part of a nf-core/rnafusion pipeline. Checkout a live demo at https://matq007.githu…☆28Updated 6 months ago