statgen / topmed_freeze3_callingLinks
TOPMed Freeze 3 variant calling pipeline
β9Updated 6 years ago
Alternatives and similar repositories for topmed_freeze3_calling
Users that are interested in topmed_freeze3_calling are comparing it to the libraries listed below
Sorting:
- CAVA (Clinical Annotation of VAriants)β14Updated 6 years ago
- πEvaluating, filtering, comparing, and visualising VCFβ28Updated 2 years ago
- gnomAD browser pre-ASHG 2018β33Updated 4 years ago
- Automated human exome/genome variants detection from FASTQ filesβ22Updated 3 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS dataβ14Updated 7 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomesβ26Updated 7 years ago
- a parallel R package for detecting copy-number alterations from short sequencing readsβ23Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical reviewβ21Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variantsβ19Updated 7 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelinesβ35Updated 8 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.β29Updated 4 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting veryβ¦β20Updated 6 years ago
- MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiersβ21Updated 8 years ago
- Explore and filter structural variant calls from Lumpy and Delly VCF filesβ8Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic modelβ27Updated last year
- β25Updated last year
- Multi-sample somatic variant callerβ52Updated 3 years ago
- β14Updated last year
- hail-based pipelines for annotating variant callsets and exporting them to elasticsearchβ23Updated this week
- A set of tools to annotate VCF files with expression and readcount dataβ29Updated 5 months ago
- Structural Variation breakpoint discovery via adaptive learningβ15Updated 2 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing readsβ31Updated 2 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGSβ17Updated 6 years ago
- Plot CNV data with a genome viewer in Rβ15Updated 8 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analysesβ31Updated 3 years ago
- A small repo for storing the code for making the files and html for CCRs.β22Updated 5 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number vaβ¦β23Updated 5 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.β32Updated 9 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data setsβ38Updated 5 years ago
- A method to identify structural variation from sequencing data in target regionsβ32Updated 4 years ago