robertopreste / HmtNote
Human mitochondrial variants annotation using HmtVar.
☆17Updated last year
Alternatives and similar repositories for HmtNote:
Users that are interested in HmtNote are comparing it to the libraries listed below
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 9 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 10 months ago
- Structural variant (SV) analysis tools☆36Updated 9 months ago
- Automated Detection and Qualification of Differential Methylation☆13Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- ☆16Updated last week
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated last month
- Location of public benchmarking; primarily final results☆18Updated 2 months ago
- Tools for merging Tandem Repeat VCF files☆29Updated 2 months ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated last month
- v2.x of the microassembly based somatic variant caller☆20Updated last month
- Samwell: a python package for using genomic files... well☆20Updated 2 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 2 months ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Structural Variant Prediction Viewer☆34Updated 7 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 8 months ago
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Updated 5 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- ☆21Updated 2 weeks ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 9 months ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 2 weeks ago
- Sample Contamination Estimate from VCF☆19Updated 5 months ago
- ☆13Updated 3 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated 5 months ago
- ☆16Updated 3 months ago