genetics

Long-Read Sequencing: Solving Genetic Diagnostics Challenges

Sebastian Lunk from the Victorian Clinical Genetics Services (VCGS) in Australia spoke at London Calling 2025 on “Long-read sequencing and adaptive sampling solve complex diagnostic conundrums.” VCGS is a not-for-profit subsidiary of Murdoch Children’s Hospital with forty years of clinical genetic service delivery and 20,000 diagnostic tests performed annually. With 330 staff, they have the […]
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Case Studies on 16S rRNA Sequencing in Clinical Diagnostics

Dr. Anna Smielewska, a consultant virologist in the UK, spoke at ESCMID Global about 16S rRNA sequencing in healthcare settings. The title of the session was “Implementing portable, real-time 16S rRNA sequencing in the healthcare sector enhances antimicrobial stewardship.” Smielewska works with the Liverpool University Hospitals, several hospitals with a broad range of cases. The […]
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Plant Genome Assembly Insights from ONT Workshop

Tonight I watched the Oxford Nanopore Technologies (ONT) PAG Industry Workshop session titled “A single-platform solution for plant de novo genome assembly.” Jeannie Mounger, a field applications scientist with ONT, was the presenter. They noted that for plant genome assembly there are several considerations. Plant genome size varies greatly: from Mb to Gb. Polyploidy varies […]
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Exploring Student Knowledge in Biofilm Development

Drs. Sharleen Flowers and Stephanie Gardner presented at JMBE Live! on September 29, 2023. Rachel Horak moderated the session. The title of the session was “Here Is the Biology, Now What is the Mechanism? Investigating Biology Undergraduates’ Mechanistic Reasoning within the Context of Biofilm Development.” Gardner spoke about the challenges of understanding complex biological systems. […]
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Understanding the Research Data Lifecycle: Insights from KBase

Tonight I watched Elisha M. Wood-Charlson, KBase User Engagement Lead, present at the LISA workshop. Wood-Charlson spoke about publishing with KBase and the “research data lifecycle.” The cycle of creating and managing data with FAIR principles in mind. Wood-Charlson noted that 2022 was declared the year of open science and mandates were created to promote […]
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Exploring Microbial Genomics and Lanthanide Mining

Continuing with the LISA workshop, tonight I watched another session. This one was by a postdoc, Andrew Wilson, at Pacific Northwest National Laboratory. They have been working on plasmid and microbe sequencing. The title of the session was “Leveraging Long Reads for Synthetic Biology.” Wilson and team are using Gibson assembly and synthetic biology techniques. […]
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Exploring N50 and Genome Assembly Techniques in KBase

Tonight I continued watching the LISA workshop videos. Lauren Lui from Laurence Berkley National Lab explained the apps available on KBase for long-read only and hybrid assemblies. Using a KBase narrative, Lui shared a Spades short-read-only assembly with 30~ contigs. They described the N50 as a metric for comparing genome assemblies. To calculate N50, contigs […]
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Understanding Hybrid Assemblies in Genomics Research

Tonight I watched the introduction to day 3 of the LISA workshop. Lauren Liu from Lawrence Berkeley Nation Laboratory spoke about how genomics research can be limited by incomplete genomes. They noted that “genomes are hypotheses about what microbes are doing… but with environmental sequencing we often don’t have complete genomes.” Liu explained that assembly […]
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