Human mitochondrial variants annotation using HmtVar.
☆18Oct 16, 2023Updated 2 years ago
Alternatives and similar repositories for HmtNote
Users that are interested in HmtNote are comparing it to the libraries listed below
Sorting:
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆40Sep 8, 2025Updated 5 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated last week
- Minor Variant Calling and Phasing Tools☆15Jan 13, 2022Updated 4 years ago
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Apr 28, 2025Updated 10 months ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Nov 18, 2025Updated 3 months ago
- Generic human DNA variant annotation pipeline☆60Feb 13, 2024Updated 2 years ago
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- Repository for RecallME-v.0.1 a variant calling pipelines benchmarker and optimizer☆13Dec 18, 2023Updated 2 years ago
- Tandem repeat genotyping from long reads☆20Updated this week
- CLI to automate Nextflow pipeline testing☆12Dec 15, 2025Updated 2 months ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Updated this week
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- DNN-based small variant caller☆12May 2, 2022Updated 3 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 3 years ago
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 5 months ago
- ☆16Jan 10, 2022Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated 2 weeks ago
- Efficient base quality score recalibrator for NGS data☆24Nov 28, 2015Updated 10 years ago
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- DeepMP is a computational tool to detect DNA modifications in Nanopore sequencing data☆28Mar 18, 2022Updated 3 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Jun 6, 2024Updated last year
- A bioinformatics pipeline to analyze mtDNA from NGS data☆97Mar 5, 2024Updated last year
- HaploGrep - mtDNA haplogroup classification. Supporting rCRS and RSRS.☆78Feb 28, 2023Updated 2 years ago
- Somatic point mutation caller☆17Jul 8, 2016Updated 9 years ago
- nPoRe: n-Polymer Realigner for improved pileup-based variant calling☆18Jul 11, 2022Updated 3 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆34Jun 6, 2025Updated 8 months ago
- ☆31Aug 9, 2021Updated 4 years ago
- An Artificial Neural Network-based discriminator for validating clinically significant genomic variants☆35Dec 25, 2023Updated 2 years ago
- Kmer Analysis of Pileups for Genotyping☆35Jan 30, 2026Updated last month
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- A program to detect denovo-variants using next-generation sequencing data.☆55Mar 30, 2020Updated 5 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- ☆39Jul 3, 2025Updated 7 months ago
- PharmGKB NGS Pipeline☆19Oct 2, 2018Updated 7 years ago