sequencing

Understanding Alternative Splicing with Blessy R Package

Nadia Davidson from The Walter and Eliza Hall Institute in Australia presented at London Calling 2025. The intriguing title of the session was “Blessy: enabling differential analysis of phased protein domains.” Blessy is a new tool from Davidson’s research group. Davidson spoke about the impact of alternative splicing on protein function. Davidson and team used […]
Read more

Efficient Genome Assembly with Hifiasm

Haoyu Cheng from Yale University spoke at London Calling 2025 on “Efficient telomere-to-telomere genome assembly with nanopore reads using hifiasm.”Cheng described the challenges of assembling a diploid human genome. In 2022, the first telomere-to-telomere (T2T) human genome was published. One current strategy is to use long-read data and phasing. There are computational challenges. Hifiasm is […]
Read more

Comparing Illumina and ONT for Genome Analysis

After a good vacation in San Miguel de Allende, Mexico, I am back! Tonight I watched Michael Wiley from the University of Nebraska Medical Center in the USA present at London Calling 2025 on “Automated sample-to-answer workflows for whole genome sequencing to investigate hospital-acquired infections.” The public health labs are embedded in the medical center […]
Read more

Understanding Vancomycin-Resistant _E. faecium_ Transmission in New Zealand

Rhys White from the Institute of Environmental Science and Research in New Zealand presented at London Calling 2025. The title of the session was “Nanopore sequencing captures first in-patient evolution of vancomycin-resistant E. faecium in New Zealand.” White explained that Enterococcus faecium lives in the human gut and is a Gram-positive opportunistic pathogen. White and […]
Read more

Challenges in Diagnosing Pediatric Leukemias in Low-Income Countries

Javeria Aijaz from the Indus Hospital and Health Network in Pakistan presented at London Calling 2025 on “Pediatric leukemias: clinical validation of Oxford Nanopore-based gene expression profiling.” Aijaz explained that pediatric leukemias are divided into three lineages. Classification often requires flow cytometry. WHO introduced the category of “Not Further Classified” (NFC). Currently, comprehensive diagnosis requires […]
Read more

Insights on CAR T-Cell Resistance through Single-Cell Sequencing

Ruben Cools from VIB-KU Leuven, Belgium presented at London Calling 2025 on “Bridging genotype and phenotype through long-read, single-molecule multiomics.” They are working on a high-throughput long-read single-cell open chromatin and transcriptome profiling method. The SPLOGGET approach prepares whole-genome, open chromatin and full-length transcriptome sequencing libraries for single cells. Cools explained that the method uses […]
Read more

Using Oxford Nanopore Technologies for Cancer Diagnosis in Low-Resource Settings

Thomas Alexander from the University of North Carolina spoke at London Calling 2025 about “Collaborative development of pediatric cancer diagnostics in low-resource settings.” Alexander is a physician and focused on the use of Oxford Nanopore Technologies (ONT) to diagnose cancers. Diagnostic accuracy is foundational, and low-resource countries have worse outcomes, noted Alexander. Using a single […]
Read more

Advancing Pediatric Germ Cell Tumor Classification

Ana Flavia is a PhD student at Barretos Cancer Hospital, Brazil, and also a visiting scholar at The University of North Carolina at Chapel Hill. Flavia presented at London Calling 2025 on “Advancing pediatric germ cell tumor classification through nanopore-based transcriptome analysis.” Germ cell tumors (GCT) were described as rare and diagnosed by morphological classification […]
Read more

Advancements in Nanopore HLA Testing for Pharmacogenomics

Thidathip Wongsurawat presented at London Calling 2025 on “Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics.” Wongsurawat is from Mahidol university in Thailand. Wongsurawat has been using nanopore sequencing since 2017 and moved back to her hometown after doing research in the US. Now they work with a company and set […]
Read more

Nanopore Sequencing in Clinical Settings: Insights from UMC Utrecht

Marcel Nelen from the UMC Utrecht in the Netherlands, spoke at London Calling 2025 on “Nanopore sequencing: a newbie’s perspective on needs in a clinical setting.” The Genome Diagnostics section at UMC Utrecht is a genome diagnostic center that works under ISO accreditation. All the tests are accredited by the Dutch accreditation council. Nelen noted […]
Read more
Press ESC key to close search