statgen / topmed_freeze3_calling
TOPMed Freeze 3 variant calling pipeline
☆10Updated 5 years ago
Related projects: ⓘ
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆28Updated 3 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆31Updated 8 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Pipeline for structural variation detection in cohorts☆45Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers☆21Updated 7 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 4 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- a parallel R package for detecting copy-number alterations from short sequencing reads☆22Updated 3 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆32Updated 7 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
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 2 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 3 years ago
- Python package and routines for merging VCF files☆29Updated 3 years ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 5 years ago
- ☆23Updated 5 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 3 years ago
- ☆15Updated 9 months ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Automated human exome/genome variants detection from FASTQ files☆22Updated 2 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 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
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- ☆22Updated last month
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 3 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- PopSTR - A Population based microsatellite genotyper☆31Updated 10 months ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated last year