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Updated: Aug 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
NGSNGS: next-generation simulator for next-generation sequencing data
Rasmus Amund Henriksen1, Lei Zhao1, Thorfinn Sand Korneliussen1
1Lundbeck Foundation GeoGenetics Centre, Globe Institute, University of Copenhagen, 1350 Copenhagen K, Denmark.
A new multithreaded simulator, Next-Generation Sequencing data simulator (NGSNGS), generates next-generation sequencing data faster than existing tools. It simulates reads with platform-specific features and includes a damage model for ancient DNA analysis.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- The increasing volume of DNA sequencing data necessitates efficient bioinformatics tools.
- In silico data are vital for validating genomic analysis pipelines and models.
- Existing sequencing simulators may lack speed or specific features for diverse applications.
Purpose of the Study:
- To introduce NGSNGS, a novel multithreaded simulator for next-generation sequencing data.
- To enhance the speed and capabilities of in silico genomic data generation.
- To provide a flexible tool for simulating various genomic contexts, including ancient DNA.
Main Methods:
- Development of a multithreaded simulation framework for rapid data generation.
- Incorporation of platform-specific nucleotide quality score profiles.
- Implementation of a post-mortem damage model for ancient DNA simulation.
- Sampling from reference genomes, including polyploid assemblies and population haplotypes.
- Direct simulation of known variable sites.
Main Results:
- NGSNGS achieves significantly faster read simulation speeds compared to current methods.
- The simulator accurately models platform-specific sequencing characteristics.
- The inclusion of a damage model enables realistic simulation of ancient DNA data.
- The software supports diverse genomic inputs and allows direct simulation of variations.
Conclusions:
- NGSNGS offers a faster and more versatile solution for generating simulated next-generation sequencing data.
- The tool is valuable for validating genomic analyses and exploring diverse sequencing scenarios.
- The open-source availability promotes its adoption and further development in the bioinformatics community.
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