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Third-Generation Sequencing

At the COMBINE Lab, a primary focus of our research is Third-Generation Sequencing, with a specific emphasis on Oxford Nanopore Technologies (ONT). Unlike traditional short-read methods, nanopore sequencing allows for the direct, real-time analysis of long DNA and RNA fragments. The main strengths of this technology lie in its ability to effortlessly span complex genomic regions, accurately identify large structural variations, and directly detect epigenetic modifications, such as DNA methylation, without the need for chemical bisulfite conversion.

Our laboratory proudly stands as a pioneer in this field within the national scientific landscape. We were among the very first in Italy to adopt and test Oxford Nanopore technology, running some of its earliest demo versions. With over 15 years of hands-on experience, our team has witnessed and contributed to the evolution of long-read sequencing from its inception to its current high-throughput capabilities.

Today, this deep expertise is backed by state-of-the-art infrastructure. The COMBINE Lab currently hosts two PromethION 2 Solo (P2 Solo) sequencers. This advanced setup allows us to generate massive amounts of high-yield genomic data in-house, fueling our research and the development of innovative, custom bioinformatics pipelines tailored for long-read data.

Last update

05.06.2026

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