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☆33Updated 7 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Updated 4 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- R package to work with ctDNA sequencing data☆45Updated 3 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Updated 10 months ago
- CADD-SV – a framework to score the effect of structural variants☆18Updated last week
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆40Updated 4 months ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- DRAGEN Tumor/Normal workflow post-processing☆25Updated 2 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
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 5 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- ☆35Updated 4 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 8 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 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
- a set of NGS pipelines☆24Updated 3 weeks ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- 180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering,…☆18Updated 2 months ago
- Opossum is a tool to pre-process RNA-seq reads prior to variant calling.☆28Updated 7 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Updated 9 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
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Updated 6 years ago