Today, I watched another London Calling 2024 studio interview. Zoe McDougall interviewed three speakers. Tom Walsh from the University of Washington spoke about how long reads are important to determine intronic mutations. The full locus of BRCA1 is over 100 kb, and intronic mutations can occur with significant implications. Mike Clark from the University of Melbourne in Australia explained how developing tools can be used in different applications. Clark is studying patterns of expression and isoform varieties in developmental processes. Short-read sequencing of transcripts misses some information. Long-read isoform sequencing can be very powerful. Lea Payen from Hospices Civils of Lyon in France described how pharmacogenetics can help determine treatment efficacy. They are studying a gene variant and its impact on patient care. Their example was a psychiatric patient, and the management can have profound quality of life impacts. Walsh is excited about updates to adaptive sampling and being able to sequence deeper exactly the sequences or regions you want. McDougall shared that a speaker emphasized how de novo human genome assembly can help overcome some bias in existing references. Walsh was also excited about working in the Caribbean using nanopore sequencing for genetic screening. Payen enjoyed learning about telomere sequencing. Clark and Walsh spoke about connecting and collaborating on future projects. I didn’t realize the impact of intronic mutations, and this interview highlighted complementary approaches and the importance of new tools and collaboration.
