bioinfo-chru-strasbourg / howard
Highly Open Workflow for Annotation & Ranking toward genomic variant Discovery
☆10Updated this week
Alternatives and similar repositories for howard:
Users that are interested in howard are comparing it to the libraries listed below
- A snakemake workflow for benchmarking variant calling approaches with Genome in a Bottle (GIAB), CHM (syndip) or other custom datasets☆12Updated 2 weeks ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated last week
- ☆39Updated 6 months ago
- This tools counts the number of specific k-mers within sequence data. The counts can then be compare to other counts to determine to comp…☆29Updated 4 months ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated last year
- ☆13Updated 2 years ago
- A VCF comparison engine for structual variant benchmarking☆19Updated 11 months ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆22Updated this week
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Whole Genome Sequenceing Structural Variation Pipelines☆16Updated 5 years ago
- ☆29Updated 2 years ago
- Variant annotation and merging pipeline☆32Updated 2 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆36Updated 9 months ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 9 months ago
- Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research☆26Updated this week
- Working space for the GIAB TR benchmarking project☆21Updated 5 months ago
- ☆30Updated 2 years ago
- Location of public benchmarking; primarily final results☆18Updated last month
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 8 months ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆17Updated last year
- Pipeline code for creating a fully haplotype-resolved assembly from a combination of PacBio/ONT long reads and Illumina Strand-seq data☆15Updated 11 months ago
- Automated Detection and Qualification of Differential Methylation☆12Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 9 months ago
- Short Tandem Repeat disease loci resource☆14Updated this week
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated last year
- Structural variant VCF annotation, duplicate removal and comparison☆31Updated last month