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
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Updated 3 years ago
- Toolkit for calling and analyzing de novo STR mutations☆13Updated last year
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Filter and prioritize fusion calls☆20Updated 8 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 11 months ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 6 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- ☆15Updated last year
- 180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering,…☆18Updated 3 weeks ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 2 months ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Updated 5 years ago
- Official code repository for JAX-CNV☆12Updated 5 years ago
- Codes and Data for FFPEsig manuscript☆17Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Combined mutation recurrence and functional impact to identify coding and non-coding cancer drivers☆15Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- R package to work with ctDNA sequencing data☆40Updated 3 years ago
- ☆46Updated 5 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago