david-a-parry / vaseLinks
Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
☆12Updated 3 years ago
Alternatives and similar repositories for vase
Users that are interested in vase are comparing it to the libraries listed below
Sorting:
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10Updated 8 years ago
- DNA copy number detection from off-target sequence data☆32Updated 7 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Updated 4 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Updated 2 years ago
- R package to work with ctDNA sequencing data☆44Updated 3 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- Reconstructs complex variation using Bionano optical mapping data and breakpoint graph data☆19Updated 2 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 8 months ago
- RADIA: RNA and DNA Integrated Analysis for Somatic Mutation Detection☆29Updated 5 years ago
- Codes and Data for FFPEsig manuscript☆17Updated last year
- DriverPower☆26Updated 10 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆28Updated 3 years ago
- Texomer: Integrating Analysis of Cancer Genome and Transcriptome Sequencing Data☆21Updated 5 years ago
- Opossum is a tool to pre-process RNA-seq reads prior to variant calling.☆28Updated 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
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- A Shiny App for visualizing genomic data☆19Updated 3 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 10 months ago
- Nextflow pipeline for Mutect2 somatic variant calling best practices☆22Updated last year
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago
- ☆22Updated 3 months ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- DRAGEN Tumor/Normal workflow post-processing☆23Updated 2 years ago