robertopreste / HmtNote
Human mitochondrial variants annotation using HmtVar.
☆16Updated 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☆28Updated 8 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 9 months ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- Location of public benchmarking; primarily final results☆18Updated last month
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Structural Variant Prediction Viewer☆34Updated 7 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- 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
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- ☆18Updated 3 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated this week
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Updated 5 years ago
- Sample Contamination Estimate from VCF☆19Updated 4 months ago
- A tool for sample swap identification in high throughput sequencing studies☆10Updated 3 weeks ago
- Structural variant VCF annotation, duplicate removal and comparison☆30Updated 3 weeks ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- Automated Detection and Qualification of Differential Methylation☆12Updated last year
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 7 months ago
- Immuological gene typing and annotation for genome assembly☆34Updated last week
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆21Updated 5 years ago
- ☆21Updated 3 months ago
- A variant caller for the GBA gene using WGS data☆21Updated 7 months ago
- ☆33Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 weeks ago