Tonight I watched a London Calling 2023 session that was the rare disease research panel Q&A. One question was about the importance of methylation in rare diseases. Panelists were speakers from other London Calling 2023 sessions. They noted that sample type is important, as tissue and peripheral blood may be very different in terms of methylation status. Another question was about the use of long-read sequencing for studying gene expansions and their clinical significance. Panelists explained that long-read sequencing is important to sequence over repetitive regions. Repeats in some cases have been confirmed by Southern blot analysis. Work done by Nanopore suggests variable repeat expansions. One question to panelists was about which software they recommend for variant analysis and phasing. It depended on the panelist and in some cases custom pipelines or manual analysis was still used. One panelist spoke about confirming structural variations by PCR. Transposon insertions in the genome and mapping insertion sites is an area of active research and in some cases suggests errors in the reference used. I had watched the three researchers speak individually as part of the London Calling 2023 sessions on YouTube, but it was insightful to watch the exchanges between researchers when asked questions by the audience.
