The Molecular Genetics Core at Boston Children’s Hospital today announced the availability of Oxford Nanopore’s PromethION 24 through its Molecular Genetics Core (MGC), marking a significant milestone in access to long-read sequencing technology for Boston’s biopharma and rare disease research community.
Through this new collaboration with Oxford Nanopore Technologies, the Molecular Genetics Core will offer advanced, real-time, long-read sequencing services designed to meet the needs of startups and scientific teams tackling complex genomics challenges. The PromethION 24 enables deep genomic insight with scalability and speed—unlocking structural variants, repeat expansions, and previously inaccessible regions of the genome.
Combining the MGC’s domain expertise in human genetics with Nanopore’s next-generation sequencing platform, this collaboration provides local biopharma with a cost-effective, full-service solution for high-throughput genomics. Services include long-read and ultra-long DNA sequencing, direct RNA and cDNA sequencing, and adaptive sampling—all in a single accessible location.
“The ability to accurately characterize structural variation and hard-to-sequence regions is particularly vital for rare disease discovery,” said Dr. Alan Beggs, Director of the Molecular Genetics Core. “Oxford Nanopore’s long-read capabilities give researchers a powerful lens into the human genome—one that opens up new avenues for diagnostic development and therapeutic targeting.”
With this launch, Boston Children’s Hospital strengthens its role as a leading resource for genomics-driven innovation, offering essential infrastructure to incubators, early-stage ventures, and established biotechs seeking to accelerate their omics research.
Learn More
Learn more about the PromethION 24 at the MGC:
https://promethionmgc.my.canva.site/mgc-bch-promethion24
For project inquiries or collaboration opportunities, contact the Molecular Genetics Core:
Website: https://research.childrenshospital.org/resources/cores/molecular-genetics-core
Email: catherine.brownstein@childrens.harvard.edu