Min Wang from Murdoch Children’s Research Institute in Australia presented at the Nanopore Community Meeting in Singapore 2023 on “Variant segregation in rare disease singletons and duos using nanopore adaptive sampling.” They spoke about a method to learn about rare variants when samples from both parents are not available. When one DNA is not available, phasing may not be possible. Their method uses adaptive sampling. They collect data from trio families and sequence with Nanopore. The reads are mapped and phased. The information is used to build a model for variants using linear regression. Using this method, they are able to predict variants. The model has been used with data from families and confirmed by genome browsing. Future studies will include more testing to assess variability and improve the model. Wang and team also want to improve the software and make the pipeline more automated. I find this approach and learning about haplotypes and phasing challenging to understand and really intriguing.
