robertopreste / HmtNoteLinks
Human mitochondrial variants annotation using HmtVar.
☆18Updated last year
Alternatives and similar repositories for HmtNote
Users that are interested in HmtNote are comparing it to the libraries listed below
Sorting:
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- Samwell: a python package for using genomic files... well☆20Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated 2 weeks ago
- Sample Contamination Estimate from VCF☆20Updated 9 months ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 3 years 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
- Specific Transposable Element Aligner (HERV-K)☆16Updated 5 years ago
- Structural variant (SV) analysis tools☆36Updated last year
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 6 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 4 months ago
- Location of public benchmarking; primarily final results☆18Updated 6 months ago
- ☆13Updated 3 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Single-pass probabilistic duplicate marking of alignments with a Bloom filter.☆23Updated 2 years ago
- ☆16Updated 7 months ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated last year
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- CADD-SV – a framework to score the effect of structural variants☆14Updated 5 months ago
- Tools for merging Tandem Repeat VCF files☆33Updated 4 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 3 weeks ago
- Automated Detection and Qualification of Differential Methylation☆14Updated last year
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 5 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆33Updated 2 months ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- Evaluation of phasing performance☆23Updated 7 years ago
- ☆21Updated last week
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆30Updated 4 months ago
- POSTRE: Prediction Of STRuctural variant Effects☆27Updated 6 months ago