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Searching for Structural Variants of Interest in the 1000 Genomes Project

Gus Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Houston about “Understanding normal patterns of human structural variation with nanopore sequencing.” Gustafson is a second-year graduate student. They provided background, including these statistics: >50% of suspected Mendelian conditions remain undiagnosed after clinical testing, and up to 2/3 of structural variants […]
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Improving ‘Noisy’ Long-read RNA-Seq

Chenchen Zhu from Stanford University presented at London Calling 2022 on the “Systematic assessment of long-read RNA-Seq datasets and its application in transcriptome analysis.” They are interested in understanding RNA isoforms using long-read sequencing. Differences in start sites and isoforms can lead to disease. The experimental workflow that Zhu shared was using reverse transcription and […]
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