SCIENCE

Unlocking Genome Secrets with Smart Sequencing

Sat Mar 29 2025
Genome sequencing has made huge leaps forward. Now, some methods can map out chromosomes from end to end. However, these advanced techniques often need a lot of data from different sources. This can make the process expensive and time-consuming. The good news is that researchers are finding ways to cut costs. They are looking at using less data and focusing on just one type of sequencing. One promising approach is to use Oxford Nanopore Technologies (ONT) reads. These reads are long and can cover large parts of the genome. But they can have errors. To fix this, researchers are using Next-Generation Sequencing (NGS) reads. These reads are shorter but more accurate. By combining the two, they can create a more reliable genome map. The goal is to achieve something called HiFi-level assembly quality. This means the genome map is very accurate and complete. Researchers have tested different tools and methods to see what works best. They found that some tools, like Verkko and Hifiasm, can produce good results. But they also found that these tools can make mistakes, especially in complex parts of the genome. So, what's the best way forward? Researchers suggest using a mix of ONT reads and NGS reads. This approach can give good results without aiming for perfect completeness. It's a practical solution that balances cost and accuracy. Different NGS technologies were also put to the test. These include MGI, Illumina, and stLFR. Each has its strengths and weaknesses. The choice of technology can affect the final genome assembly. So, it's important to consider these factors when planning a sequencing project.

questions

    In what ways could the combination of ONT and NGS reads be optimized to achieve the best balance between cost and assembly quality?
    Is it possible that the reported performance metrics of ONT-based assemblies are being manipulated to downplay the true capabilities of HiFi sequencing?
    Could there be a hidden agenda behind promoting ONT-based assembly with NGS correction, aiming to reduce the dominance of more expensive sequencing technologies?

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