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:
- ☆26Updated last year
- 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
- ☆23Updated 10 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 7 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- Aggregation and analyses of rare CNVs across diseases☆14Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 2 months ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆40Updated 4 years ago
- Long read to rMATS☆32Updated 2 years ago
- A software for calculating telomere length☆72Updated 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
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆54Updated 2 weeks ago
- ☆35Updated 4 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- ☆23Updated 4 years ago
- An R package for predicting HR deficiency from mutation contexts☆29Updated 8 months ago
- ☆33Updated 3 years ago
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆28Updated 3 years ago
- For biological deep sequencing data. Decompose a UCSC knownGenes/Ensembl GTF file into transcript regions (i.e. exons, introns, UTRs and…☆36Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆25Updated last month
- lncRNA-screen☆25Updated 8 years ago
- Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees…☆26Updated 2 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 4 months ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆36Updated last year