flalom / vcf-reformatterLinks
🧬 High-performance VCF file parser and reformatter with VEP annotation support. Converts complex VCF files to analyzable TSV format with intelligent transcript handling.
☆39Updated last month
Alternatives and similar repositories for vcf-reformatter
Users that are interested in vcf-reformatter are comparing it to the libraries listed below
Sorting:
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆33Updated 4 months ago
- Quality of life improvements for Bioinformatics in Python.☆31Updated last week
- vembrane filters VCF records using python expressions☆64Updated 2 weeks ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Fast sequencing data quality metrics☆28Updated last month
- expressions on VCFs☆85Updated 5 months ago
- Location of public benchmarking; primarily final results☆18Updated 7 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Automated Detection and Qualification of Differential Methylation☆14Updated last year
- Samwell: a python package for using genomic files... well☆20Updated 3 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆35Updated 5 months ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 6 months ago
- Sample Contamination Estimate from VCF☆21Updated 11 months ago
- Easy genomic regions for short-read variant calling☆44Updated last month
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆45Updated last month
- add true-negative SVs from a population callset to a truth-set.☆15Updated 3 years ago
- ☆23Updated 4 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated last month
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Fast FASTQ sample demultiplexing in Rust.☆65Updated 4 months ago
- Structural variant (SV) analysis tools☆38Updated last year
- ☆31Updated 3 years ago
- ⛰ covtobed | Convert the coverage track from a BAM file into a BED file☆44Updated 3 months ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Updated last year
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆20Updated this week
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Tumour-only somatic mutation calling using long reads☆27Updated 11 months ago
- ☆27Updated 8 months ago