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GitHub topics: variant-calling

thom-99/benchmarking_vcallers

benchmarking variant callers for ONT long reads (in banana) - EI summer project

Language: Jupyter Notebook - Size: 817 MB - Last synced at: 2 days ago - Pushed at: 2 days ago - Stars: 0 - Forks: 0

ANSES-Ploufragan/vvv2_display

Create png file of variants proportions in an assembly/reference including CDS positions using output of vadr 1.5.1 (annotation) and vardict-java 1.8.3 (variant calling)

Language: Python - Size: 4.37 MB - Last synced at: 2 days ago - Pushed at: 2 days ago - Stars: 1 - Forks: 0

PacificBiosciences/sawfish

Joint structural variant and copy number variant caller for HiFi sequencing data

Language: Rust - Size: 1.16 MB - Last synced at: 2 days ago - Pushed at: 3 days ago - Stars: 60 - Forks: 4

TileDB-Inc/TileDB-VCF

Efficient variant-call data storage and retrieval library using the TileDB storage library.

Language: C++ - Size: 34.9 MB - Last synced at: 3 days ago - Pushed at: 3 days ago - Stars: 97 - Forks: 17

nf-core/sarek

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

Language: Nextflow - Size: 107 MB - Last synced at: 2 days ago - Pushed at: 2 days ago - Stars: 473 - Forks: 472

ShujiaHuang/BaseVar2

This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially for NIPT data

Language: C - Size: 4.58 MB - Last synced at: 3 days ago - Pushed at: 3 days ago - Stars: 4 - Forks: 0

nf-core/rnavar

gatk4 RNA variant calling pipeline

Language: Nextflow - Size: 4.29 MB - Last synced at: 2 days ago - Pushed at: 10 days ago - Stars: 53 - Forks: 41

nf-core/variantbenchmarking

Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research

Language: Nextflow - Size: 21.7 MB - Last synced at: 2 days ago - Pushed at: 5 days ago - Stars: 35 - Forks: 16

ghga-de/nf-platypusindelcalling

This page is reserved for NextFlow based Indell Calling Workflow (with Platypus) from DKFZ

Language: Python - Size: 119 MB - Last synced at: 2 days ago - Pushed at: 10 months ago - Stars: 2 - Forks: 0

nf-core/raredisease

Call and score variants from WGS/WES of rare disease patients.

Language: Nextflow - Size: 188 MB - Last synced at: 3 days ago - Pushed at: 18 days ago - Stars: 108 - Forks: 49

tanghaibao/jcvi

Python library to facilitate genome assembly, annotation, and comparative genomics

Language: Python - Size: 18.2 MB - Last synced at: 2 days ago - Pushed at: 14 days ago - Stars: 850 - Forks: 195

Janespercy/somatic-variant-ml-pipeline

Machine learning pipeline for predicting pathogenicity of somatic variants in cancer genomics using Snakemake and scikit-learn

Language: Python - Size: 31.3 KB - Last synced at: 4 days ago - Pushed at: 5 days ago - Stars: 0 - Forks: 0

HKU-BAL/ClairS-TO

ClairS-TO - a deep-learning method for tumor-only somatic variant calling

Language: Python - Size: 12.1 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 68 - Forks: 4

nf-core/viralrecon

Assembly and intrahost/low-frequency variant calling for viral samples

Language: Nextflow - Size: 10.4 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 141 - Forks: 133

nf-core/pacvar

Longread PacBio sequencing processing for WGS and PureTarget

Language: Nextflow - Size: 345 MB - Last synced at: 2 days ago - Pushed at: 2 months ago - Stars: 11 - Forks: 8

pdimens/harpy

Process linked-read data, from raw sequences to phased haplotypes, batteries included. Works with WGS too!

Language: Python - Size: 471 MB - Last synced at: 1 day ago - Pushed at: 2 days ago - Stars: 18 - Forks: 2

pablo-aja-macaya/ARVIA

ARVIA: Antibiotic Resistance Variant Identifier for Pseudomonas aeruginosa

Language: Python - Size: 9.77 MB - Last synced at: 9 days ago - Pushed at: 9 days ago - Stars: 1 - Forks: 0

cidgoh/nf-ncov-voc

A Nextflow wrapped workflow for generating the mutation profiles of SARS-CoV-2 or Mpox genomes. Workflow is developed in collaboration with VIRUS-MVP (https://github.com/cidgoh/VIRUS-MVP) which can be used to visualize the mutation profiles and functional annotations.

Language: Python - Size: 76.7 MB - Last synced at: 9 days ago - Pushed at: 10 days ago - Stars: 9 - Forks: 5

NBISweden/workshop-ngsintro

Workshop • Intro to Bioinformatics using NGS data • 5 days

Language: HTML - Size: 499 MB - Last synced at: 10 days ago - Pushed at: 10 days ago - Stars: 15 - Forks: 7

ShujiaHuang/ilus

A lightweight and handy variant calling pipeline generator for whole-genome sequencing (WGS) and whole exom sequencing data (WES) analysis by using GATK and Sentieon. 一个基于 GATK 和 Sentieon 的简易且全面的 WGS/WES 分析流程生成器.

Language: Python - Size: 855 KB - Last synced at: 5 days ago - Pushed at: 4 months ago - Stars: 139 - Forks: 35

allytrope/variant-analysis

A Snakemake pipeline for variant calling of genomic FASTQ data using GATK

Language: Jupyter Notebook - Size: 4.46 MB - Last synced at: 10 days ago - Pushed at: 11 days ago - Stars: 5 - Forks: 0

AMRmicrobiology/WGS-Analysis-VariantCalling

Nextflow pipeline for whole-genome sequencing (WGS) analysis and variant calling in bacterial genomes using Illumina data, supporting de novo assembly and reference-based analysis.

Language: Nextflow - Size: 937 KB - Last synced at: 6 days ago - Pushed at: 6 days ago - Stars: 3 - Forks: 0

genomicssport/varlinker

exact point variant annotation

Language: Rust - Size: 124 KB - Last synced at: 11 days ago - Pushed at: 11 days ago - Stars: 0 - Forks: 0

bbglab/deepUMIcaller

A Nextflow pipeline for duplex sequencing data analysis

Language: Nextflow - Size: 152 MB - Last synced at: 4 days ago - Pushed at: 4 days ago - Stars: 2 - Forks: 1

EUCANCan/variant-callers

Scripts and containers to run the variant callers originally used in ONCOLINER

Language: Shell - Size: 247 MB - Last synced at: about 18 hours ago - Pushed at: 12 months ago - Stars: 3 - Forks: 0

EUCANCan/variant-extractor

Deterministic and standard extractor of SNVs, indels and structural variants (SVs) from VCF files.

Language: Python - Size: 6.5 MB - Last synced at: about 18 hours ago - Pushed at: 5 months ago - Stars: 7 - Forks: 1

gmboowa/rMAP-2.0

This tool provides a modular WDL-Docker-Cromwell environment for rMAP, a bioinformatics pipeline for analyzing microbial genomic data, genome assembly & profiling of the resistome, mobilome & virulome, as well as pangenome & MLST typing, BLASTn & phylogenetic analysis. It includes all required tools, enabling reproducible & scalable analysis

Language: WDL - Size: 28 MB - Last synced at: 13 days ago - Pushed at: 13 days ago - Stars: 1 - Forks: 0

flalom/vcf-reformatter

🧬 High-performance VCF file parser and reformatter with VEP annotation support. Converts complex VCF files to analyzable TSV format with intelligent transcript handling.

Language: Rust - Size: 112 KB - Last synced at: 1 day ago - Pushed at: 23 days ago - Stars: 36 - Forks: 3

gear-genomics/tracy

Basecalling, alignment, assembly and deconvolution of Sanger Chromatogram trace files

Language: C++ - Size: 2.97 MB - Last synced at: 16 days ago - Pushed at: 16 days ago - Stars: 114 - Forks: 21

suhrig/arriba

Fast and accurate gene fusion detection from RNA-Seq data

Language: C++ - Size: 24.2 MB - Last synced at: 16 days ago - Pushed at: 17 days ago - Stars: 245 - Forks: 54

moiexpositoalonsolab/grenepipe

A flexible, scalable, and reproducible pipeline to automate variant calling from raw sequence reads, with lots of bells and whistles - for sampled individuals, and for pool sequencing.

Language: Python - Size: 100 MB - Last synced at: 3 days ago - Pushed at: 2 months ago - Stars: 106 - Forks: 24

tseemann/snippy

:scissors: :zap: Rapid haploid variant calling and core genome alignment

Language: Perl - Size: 124 MB - Last synced at: about 22 hours ago - Pushed at: about 1 year ago - Stars: 542 - Forks: 116

IdoBar/SNP_Calling_Papaya

Bioinformatics analysis pipeline to call SNPs from Papaya genotypes for population genetics and GWAS analyses

Language: HTML - Size: 1.12 MB - Last synced at: 17 days ago - Pushed at: 17 days ago - Stars: 0 - Forks: 0

aprilweilab/pyigd

Python-only parser for Indexable Genotype Data (IGD) format.

Language: Python - Size: 52.7 KB - Last synced at: about 20 hours ago - Pushed at: 2 months ago - Stars: 6 - Forks: 0

oicr-gsi/strelkaSomatic

Strelka2 somatic variant calling workflow

Language: WDL - Size: 62.5 KB - Last synced at: 18 days ago - Pushed at: 18 days ago - Stars: 1 - Forks: 0

NVIDIA/VariantWorks

Deep Learning based variant calling toolkit - https://clara-parabricks.github.io/VariantWorks/

Language: Python - Size: 10.1 MB - Last synced at: 9 days ago - Pushed at: 18 days ago - Stars: 46 - Forks: 12

fullscreen-triangle/gospel

Python framework for comprehensive variant detection in whole genome sequences using advanced machine learning models for cross domain pattern recognition in fitness, pharmacogenetics and nutritional aspects of sprint running

Language: Makefile - Size: 60 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 1 - Forks: 0

oicr-gsi/hmmcopy

Calls Copy Number Variants on sequencing data from cancer patients

Language: WDL - Size: 56.6 KB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 3 - Forks: 1

genomic-medicine-sweden/nallo

An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.

Language: Nextflow - Size: 101 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 33 - Forks: 11

ShujiaHuang/mitoquest

Human Mitochondrial sequencing data Analysis Toolkit. Fetching information like variants, heteroplasmy/homoplasmy, etc. on mitochondrial genome from sequencing data

Language: C - Size: 27.7 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 4 - Forks: 0

IdoBar/HPC_SNP_calling_documentation

SNP calling pipeline for clonal Ascochyta rabiei

Language: HTML - Size: 73.8 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 0 - Forks: 0

annmariyaes/chipcallvar

chipcallvar is a reproducible Nextflow workflow to call somatic variants (SNVs and INDELs) on ChIP-seq data primarily taking advantage of macs3 callvar, GATK mutect2 and freebayes variant callers.

Language: Nextflow - Size: 4.31 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 0 - Forks: 0

INMEGEN/Pipelines_Inmegen

Flujos de trabajos desarrollados y automatizados en el Intituto Nacional de Medicina Genómica para el procesamiento de datos genómicos y transcriptómicos.

Language: Nextflow - Size: 7.41 MB - Last synced at: 2 days ago - Pushed at: 20 days ago - Stars: 9 - Forks: 0

andersen-lab/ivar Fork of gkarthik/ivar

iVar is a computational package that contains functions broadly useful for viral amplicon-based sequencing.

Language: C++ - Size: 16.8 MB - Last synced at: 1 day ago - Pushed at: 1 day ago - Stars: 125 - Forks: 42

gear-genomics/indigo

Indigo: SNV and InDel Discovery in Chromatogram traces obtained from Sanger sequencing of PCR products

Language: JavaScript - Size: 1.14 MB - Last synced at: 20 days ago - Pushed at: 20 days ago - Stars: 36 - Forks: 9

kishwarshafin/pepper

PEPPER-Margin-DeepVariant

Language: Python - Size: 36.1 MB - Last synced at: 17 days ago - Pushed at: over 1 year ago - Stars: 253 - Forks: 42

lh3/fermikit

De novo assembly based variant calling pipeline for Illumina short reads

Language: TeX - Size: 7.45 MB - Last synced at: 7 days ago - Pushed at: almost 5 years ago - Stars: 108 - Forks: 21

MPUSP/snakemake-simple-mapping

A Snakemake workflow for the mapping of reads to reference genomes, minimalistic and simple.

Language: Python - Size: 2.48 MB - Last synced at: 4 days ago - Pushed at: 4 days ago - Stars: 1 - Forks: 0

Clinical-Genomics/BALSAMIC

Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer

Language: Python - Size: 229 MB - Last synced at: 4 days ago - Pushed at: 4 days ago - Stars: 49 - Forks: 15

kcleal/dysgu

Toolkit for calling structural variants using short or long reads

Language: Cython - Size: 46.6 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 107 - Forks: 13

HKU-BAL/Clair3

Clair3 - Symphonizing pileup and full-alignment for high-performance long-read variant calling

Language: Python - Size: 3.97 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 292 - Forks: 32

sdegeorgia/CANVAS-summary

CNV Analysis Next-gen Variant Assessment Suite

Size: 2.93 KB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 0 - Forks: 0

broadinstitute/long-read-pipelines

Long read production pipelines

Language: Jupyter Notebook - Size: 220 MB - Last synced at: 9 days ago - Pushed at: 9 days ago - Stars: 147 - Forks: 25

sequana/sequana

Sequana: a set of Snakemake NGS pipelines

Language: Jupyter Notebook - Size: 35.7 MB - Last synced at: 3 days ago - Pushed at: about 1 month ago - Stars: 146 - Forks: 28

ShujiaHuang/basevar

This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially for NIPT data

Language: C - Size: 46.2 MB - Last synced at: 19 days ago - Pushed at: about 1 month ago - Stars: 27 - Forks: 8

tylergross97/pdx_somatic_variant_calling

A containerized bioinformatics pipeline built with Nextflow to identify somatic (acquired) mutations in the tumor of patient-derived xenograft (PDX) models, a common analysis performed in preclinical and oncology research labs

Language: Nextflow - Size: 161 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 3 - Forks: 0

macyEpell/Pell_GBS_Genomics

This repository contains scripts used to collect and analyze data from whole genome sequences of clinical Streptococcus agalactiae (Group B Strep) isolates for the project described in the following manuscript: Pell, M.E. et al., bioRxiv, 2024-04-01.

Language: R - Size: 46.9 KB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 1 - Forks: 0

BioJulia/SequenceVariation.jl

Biological sequence variation

Language: Julia - Size: 371 KB - Last synced at: 13 days ago - Pushed at: over 2 years ago - Stars: 9 - Forks: 3

LeoooJR/DIVV

Differential Investigation of Variability in Variants

Language: C - Size: 7.31 MB - Last synced at: 10 days ago - Pushed at: 11 days ago - Stars: 0 - Forks: 0

nanoporetech/megalodon

Megalodon is a research command line tool to extract high accuracy modified base and sequence variant calls from raw nanopore reads by anchoring the information rich basecalling neural network output to a reference genome/transriptome.

Language: Python - Size: 24.9 MB - Last synced at: 4 days ago - Pushed at: over 2 years ago - Stars: 204 - Forks: 27

atks/vt

A tool set for short variant discovery in genetic sequence data.

Language: C - Size: 30.1 MB - Last synced at: 6 days ago - Pushed at: over 4 years ago - Stars: 200 - Forks: 3

BiodataAnalysisGroup/synth4bench Fork of sfragkoul/synth4bench

A framework for generating synthetic genomics data for the evaluation of tumor-only somatic variant calling algorithms.

Language: R - Size: 242 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 4 - Forks: 1

sfragkoul/synth4bench

A framework for generating synthetic genomics data for the evaluation of tumor-only somatic variant calling algorithms.

Language: R - Size: 242 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 2 - Forks: 2

TimD1/vcfdist

vcfdist: Accurately benchmarking phased variant calls

Language: C++ - Size: 85.3 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 81 - Forks: 8

vcflib/vcflib

C++ library and cmdline tools for parsing and manipulating VCF files with python and zig bindings

Language: C++ - Size: 34 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 649 - Forks: 224

sanger-tol/variantcalling

Nextflow DSL2 pipeline to call variants on long read alignment.

Language: Nextflow - Size: 3.91 MB - Last synced at: 2 days ago - Pushed at: 3 days ago - Stars: 8 - Forks: 9

Illumina/paragraph

Graph realignment tools for structural variants

Language: C++ - Size: 30.8 MB - Last synced at: about 2 months ago - Pushed at: over 2 years ago - Stars: 158 - Forks: 28

Sydney-Informatics-Hub/Bioinformatics

A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common methods.

Size: 178 KB - Last synced at: 22 days ago - Pushed at: 2 months ago - Stars: 17 - Forks: 1

CTrierMaansson/DNAfusion

Identification of gene-fusions, including EML4-ALK

Language: R - Size: 63.2 MB - Last synced at: 9 days ago - Pushed at: 4 months ago - Stars: 4 - Forks: 1

karajones/capture

Plethodontid salamander DNA capture kit

Language: Shell - Size: 3.83 MB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

luntergroup/octopus

Bayesian haplotype-based mutation calling

Language: C++ - Size: 138 MB - Last synced at: 2 months ago - Pushed at: 6 months ago - Stars: 312 - Forks: 37

aprilweilab/picovcf

Single-header C++ library for fast/low-memory VCF (Variant Call Format) parsing.

Language: C++ - Size: 568 KB - Last synced at: 1 day ago - Pushed at: 1 day ago - Stars: 17 - Forks: 0

bioinformatics-centre/BayesTyper

A method for variant graph genotyping based on exact alignment of k-mers

Language: C++ - Size: 1.75 MB - Last synced at: 3 months ago - Pushed at: over 6 years ago - Stars: 87 - Forks: 7

czbiohub-sf/cerebra 📦

A tool for fast and accurate summarizing of variant calling format (VCF) files

Language: Python - Size: 164 MB - Last synced at: 3 days ago - Pushed at: over 2 years ago - Stars: 61 - Forks: 9

NIGMS/Intro-to-Pangenomics

This repository provides a comprehensive module on graphical pangenomics, guiding users through building, indexing, mapping, and visualizing pangenome graphs. The module runs on Google Cloud Platform using Jupyter notebooks and includes tools like PGGB, vg, BLAST, and Bandage.

Language: HTML - Size: 22.4 MB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

YanshengLuo/singlecell-variantcalling-pipeline

This repository provides an end-to-end workflow for variant calling from single-cell RNA-seq data (scRNA-seq) using Cell Ranger, custom Python BAM splitting, and cellsnp-lite. The pipeline works with 10x Genomics and Drop-seq data and supports human and mouse genomes.

Language: Shell - Size: 15.6 KB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

aleponce4/hantavirus-pipeline

Bioinformatics pipeline for processing Hantavirus NGS data with a two-pass approach. Implements quality control, reference-based mapping, metaconsensus refinement, variant calling, and automatic negative sample detection. Features include primer evaluation, coverage visualization, and comparison between consensus sequences.

Language: Python - Size: 124 KB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

oicr-gsi/delly

Delly workflow produces a set of vcf files with different types of structural variant calls

Language: WDL - Size: 356 KB - Last synced at: 2 days ago - Pushed at: 2 days ago - Stars: 1 - Forks: 2

oicr-gsi/varscan

varscan repo contains code for Varscan workflow

Language: WDL - Size: 124 KB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

IBCHgenomic/webanno

a unified platform for variant search

Language: TypeScript - Size: 31.3 KB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

mbhall88/NanoVarBench

Evaluating Nanopore-based bacterial variant calling

Language: Python - Size: 39.1 MB - Last synced at: 8 days ago - Pushed at: about 2 months ago - Stars: 19 - Forks: 1

gmboowa/ASFV-ONT-Gen

ASFV-ONT-Gen is a pipeline for analyzing African Swine Fever Virus (ASFV) whole-genome sequencing data generated using Oxford Nanopore Technology (ONT). It supports genome assembly, variant calling & phylogenetic analysis, enabling rapid genomic insights for surveillance & outbreak investigation

Language: Python - Size: 1.89 MB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

ValldHebron-Bioinformatics/minMutFinder

Tool written in Python and Bash implemented in a Nextflow pipeline that accurately identifies mutations and assesses their frequencies, accounting for multiple nucleotide mutations occurring within a single codon. Additionally, it can annotate mutations associated to phenotypical changes in viral populations based on user-supplied datasets.

Language: Python - Size: 79.7 MB - Last synced at: 2 days ago - Pushed at: 4 months ago - Stars: 1 - Forks: 0

gmboowa/nf-rMAP

nf-rMAP: Nextflow-powered microbial genomics pipeline for rapid antimicrobial resistance analysis. Implements rMAP's core functionality with cloud-native scalability, enhanced QC, & modular workflows. Processes Illumina data through assembly, annotation, AMR detection & phylogenetics.

Language: Nextflow - Size: 1.27 MB - Last synced at: 25 days ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

gmboowa/GenoSweep

GenoSweep is an automated genomic analysis pipeline processing raw FASTQs through quality control, host read removal, reference alignment (BWA), variant calling (bcftools), and consensus generation. Designed for pathogen/viral genomes, it ensures efficient, standardized processing from raw reads

Language: Shell - Size: 9.77 KB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

LilValero/Human-Exome-Variant-calling-Using-Illumina-Data

Bioinformatics pipeline for Illumina human exome variant calling using FastQC, Trimmomatic, BWA, Samtools, Bcftools, and SnpEff. Demonstrates a reproducible workflow for NGS data analysis. #bioinformatics #genomics #variant-calling #ngs #pipeline

Language: HTML - Size: 638 MB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

BCCDC-PHL/alignment-variants

Pipeline to perform alignment & variant calling on whole-genome sequence data

Language: Python - Size: 3.18 MB - Last synced at: 12 days ago - Pushed at: 12 days ago - Stars: 0 - Forks: 0

mcvickerlab/varCA

Use an ensemble of variant callers to call variants from ATAC-seq data

Language: Python - Size: 357 KB - Last synced at: 2 days ago - Pushed at: 4 months ago - Stars: 23 - Forks: 7

dmnfarrell/snipgenie

command line and desktop tool for microbial variant calling

Language: Jupyter Notebook - Size: 134 MB - Last synced at: 21 days ago - Pushed at: 4 months ago - Stars: 9 - Forks: 0

pblaney/mgp1000

Nextflow bioinformatics pipeline for large-scale analysis of Multiple Myeloma genomes

Language: Nextflow - Size: 324 MB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 11 - Forks: 5

jahetzler/jahetzler.github.io

github website

Language: HTML - Size: 15 MB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

lh3/minipileup

Simple pileup-based variant caller

Language: C - Size: 120 KB - Last synced at: 4 months ago - Pushed at: 5 months ago - Stars: 89 - Forks: 9

oicr-gsi/freec

freec workflow - call CNV on your tumor wih optional normal

Language: WDL - Size: 87.9 KB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

tobiasrausch/nRex

nRex: Germline and somatic single-nucleotide, short indel and structural variant calling

Language: Shell - Size: 1.87 MB - Last synced at: 2 days ago - Pushed at: 5 months ago - Stars: 12 - Forks: 2

meeranhussain/Population_genomic_analysis

A repository for efficient population genomic analysis using Snakemake workflow.

Language: R - Size: 919 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0

CRG-CNAG/CalliNGS-NF

GATK RNA-Seq Variant Calling in Nextflow

Language: Nextflow - Size: 29 MB - Last synced at: 3 months ago - Pushed at: over 2 years ago - Stars: 133 - Forks: 53

kehrlab/PopDel

Population-wide Deletion Calling

Language: C++ - Size: 20.5 MB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 35 - Forks: 2

ratope/VariantFilteringCriteriaVvTempranillo

List of the filtering criteria of the variants called in samples of Vitis vinifera cv. Tempranillo

Size: 85.9 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0

HKU-BAL/Clair3-RNA

Clair3-RNA - a long-read small variant caller for RNA sequencing data

Language: Python - Size: 528 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 22 - Forks: 1

GiuseppeBocci/Pipeline-for-Biallelic-Rare-Genetic-Disorders

Genomics 2025/2026 Project a bit enhanced :)

Language: Shell - Size: 12.7 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0