Sophia Gibson from the University of Washington presented at London Calling 2024 on “Haplotype-resolved repeat expansions & methylation patterns in 1000 Genome Project data.” Gibson noted that clinical genetic testing typically requires multiple tests and clinic visits… and is diagnostic in fewer than 50% of cases. This is described as the “diagnostic odyssey.” Long-read sequencing can resolve large and complex sequence variants and identify methylation patterns. Gibson and the lab have used the 1000 Genomes Project to characterize “normal” patterns. Gibson noted that the project, led by labs at Washington, sequenced 200 samples. The first 100 samples had high N50s above 40 kb with at least 30x coverage on R9 flow cells. To achieve these metrics, they grow cells obtained from Corielle, obtain DNA, sequence, and align. They can then evaluate complex loci for repeat length and motif composition. Gibson created software for visualizing these datasets. Across 100 samples, they observed methylation patterns. The lab developed MeOW to identify unique differentially methylated regions. Gibson concluded by noting how the Miller lab continues investigating patterns from the 1000 Genome Project. I just returned from the Allen Institute and enjoyed learning more about their cell lines and microscopy. They also use Corielle. Gibson’s work on the 1000 Genome Project contributes to large datasets and identifying patterns such as clinically relevant loci.
