RahmanTeam / CAVA
CAVA (Clinical Annotation of VAriants)
☆14Updated 6 years ago
Alternatives and similar repositories for CAVA:
Users that are interested in CAVA are comparing it to the libraries listed below
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆20Updated 4 years ago
- Plot CNV data with a genome viewer in R☆15Updated 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
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆27Updated last year
- Python package and routines for merging VCF files☆29Updated 3 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 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 …☆17Updated last year
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆31Updated 8 years ago
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆30Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆37Updated 3 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆20Updated 2 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 7 months ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months ago
- Adapters for trimming☆30Updated 5 years ago
- ONCOCNV - a package to detect copy number changes in Targeted Deep Sequencing and Exome-seq data☆25Updated 2 years ago
- ☆45Updated 5 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆24Updated 9 years ago