Tools & Pipelines
Comprehensive suite of bioinformatics tools and pipelines for STR analysis, from raw data processing to population genetics.
Contribute a tool or tutorialAnalysis Tools
Key Features:
- • High-quality curated allele frequencies
- • Genotype probability estimates
- • Quality control for autosomal STR data
- • Developed at the Institute of Legal Medicine, Medical University of Innsbruck
Key Features:
- • Standardized allele naming
- • Automated allele description
- • Developed by the Netherlands Forensic Institute
Key Features:
- • High accuracy
- • Handles complex STRs
- • Population-scale analysis
Key Features:
- • STR profiles genotyping
- • Statistical analysis of allele patterns
- • Easy integration with bioinformatics pipelines
- • Open-source toolkit
Key Features:
- • Genome-wide analysis
- • Short read support
- • High throughput
Key Features:
- • Direct motif matching from FASTQ
- • Lightweight algorithm for forensic panels
- • Online web interface available
- • Integrated into STRhub for Illumina-based pipelines
Key Features:
- • STR genotyping from BAM alignments
- • Allele and locus-level output tables
- • Designed for Nanopore long-read data
- • Open-source pipeline
Key Features:
- • Gaussian model for allele length estimation
- • Confidence intervals and bootstrapping
- • Phasing with SNVs
- • Expansion and complex repeat support
- • Optimized for ONT R10 chemistry
Key Features:
- • Structure-aware STR calling
- • Reference-free approach
- • Forensic STR marker support
- • Parallelizable pipeline
- • Validated on cell line data
Key Features:
- • Targeted STR typing from FASTQ
- • Read length ranking for allele inference
- • Fast execution
- • Custom BED panel support
Essential Bioinformatics Commands
Essential Read Processing Commands
For cleaning, filtering, and preparing FASTQ reads before genotyping.
Key Features:
- • Trim adapters and low-quality bases
- • Filter out too-short or poor-quality reads
- • Prepare clean FASTQ files for alignment
Trimmomatic
trimmomatic PE sample_R1.fastq sample_R2.fastq \
output_R1_paired.fastq output_R1_unpaired.fastq \
output_R2_paired.fastq output_R2_unpaired.fastq \
ILLUMINACLIP:adapters.fa:2:30:10 SLIDINGWINDOW:4:20 MINLEN:50fastp
fastp -i sample_R1.fastq -I sample_R2.fastq \
-o clean_R1.fastq -O clean_R2.fastq \
--detect_adapter_for_pe --html report.htmlAlignment & BAM Processing Essentials
For aligning reads and generating ready-to-analyze BAM files.
Key Features:
- • High-quality alignment
- • Sorting and indexing
- • BAM cleanup operations
BWA-MEM2 alignment
bwa-mem2 mem reference.fasta sample_R1.fastq sample_R2.fastq > sample.samConvert / sort / index
samtools view -bS sample.sam | samtools sort -o sample.sorted.bam
samtools index sample.sorted.bamRemove duplicates
samtools rmdup sample.sorted.bam sample.rmdup.bamInspecting STR Regions & Coverage
For exploring coverage, flanking regions, and STR quality signals.
Key Features:
- • Visualize STR flanking regions
- • Inspect soft-clips and misalignments
- • Evaluate STR coverage depth
Depth coverage
samtools depth -r chr12:100000-100300 sample.bam > depth.txtRegion inspection
samtools view sample.bam chr12:100000-100300Quick visualization
samtools tview sample.bam reference.fastaNanopore (ONT) Essentials
Minimal pipeline from raw ONT signals to aligned reads.
Key Features:
- • Basecall POD5 → reads (unaligned BAM)
- • Align, sort & index BAM (minimap2 + samtools)
- • QC metrics with NanoPlot
Basecalling (POD5 → BAM)
dorado basecaller dna_r10.4.1_e8.2_400bps_sup pod5/ > reads.bamAlignment to hg38
samtools fastq reads.bam | minimap2 -ax map-ont hg38.fa - | samtools sort -o aln.bam - && samtools index aln.bamQC with NanoPlot
NanoPlot --bam aln.bam --outdir nanoplot_out/Installation Requirements
The tools shown above do not come pre-installed. To run these commands, you need to install the corresponding bioinformatics utilities according to your operating system.
Linux (Ubuntu/Debian)
sudo apt update && sudo apt install samtools bcftools minimap2 trimmomatic fastpmacOS (Homebrew)
brew install samtools bcftools minimap2 fastp
brew install --cask trimmomaticBioinformatics tools are not supported natively on Windows. Use WSL2 (Ubuntu) or a Linux container for full compatibility.
Windows (WSL2 recommended)
sudo apt update && sudo apt install samtools bcftools minimap2 trimmomatic fastpLong-read tools may require Python ≥ 3.8 and sufficient disk space for basecalling models.
Dorado installation depends on your platform and GPU availability; obtain precompiled binaries from Oxford Nanopore releases.
Nanopore utilities (POD5 tools, NanoPlot, pycoQC)
pip install pod5 nanoplot pycoqcA full step-by-step installation guide for each OS will be added soon.