statgen / topmed_freeze3_calling
TOPMed Freeze 3 variant calling pipeline
☆9Updated 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
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆27Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- ☆25Updated 7 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- ☆35Updated 4 years ago
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated last year
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Joint calling of gVCF, following GATK4 Best Practices☆12Updated 6 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- ☆21Updated last month
- 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
- Expectation-Maximization algorithm for Allele-Specific Expression☆21Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- tools to efficiently retrieve and calculate LD☆33Updated 3 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- ☆14Updated 7 years ago
- ☆14Updated last year
- Python package and routines for merging VCF files☆29Updated 4 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- TOPMed analysis pipeline☆52Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago