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:
- Readme☆10Updated 5 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- ☆26Updated last year
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 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
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- ☆24Updated 11 months ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- DRAGEN Tumor/Normal workflow post-processing☆24Updated 2 years ago
- ☆35Updated 4 years ago
- Genomic Association Tester☆35Updated 2 years ago
- An R package for predicting HR deficiency from mutation contexts☆30Updated 10 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 9 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- Aggregation and analyses of rare CNVs across diseases☆14Updated 2 years ago
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆31Updated 2 years ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years 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
- lncRNA-screen☆25Updated 8 years ago
- DriverPower☆26Updated 10 months ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆37Updated last year
- RNA-seq workflow: differential transcript usage☆23Updated 2 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years 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
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 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
- Burden testing against public controls☆50Updated last year
- Mapped QC analysis program☆44Updated 7 years ago
- QDNAseq package for Bioconductor☆53Updated last year