introns

Discovering Deeply Intronic Mutations with Nanopore Sequencing

Tom Walsh from the University of Washington in the USA spoke at London Calling about “Discovery of deeply intronic damaging mutations with nanopore sequencing.” Walsh explained that in the 1990s, genetic testing for predisposition to breast cancer began. In the 200s, additional cancer-risk genes were discovered. Now, there are numerous panels and ten genes for […]
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Nanopore Sequencing to Investigate Splicing Order and Deadenylation Trends

Karine Choquet from Harvard Medical School spoke at the Nanopore Community Meeting 2022 about “Direct RNA sequencing reveals multi-intron splicing order and poly(A) tail lengths across subcellular compartments.” This five-minute session began by explaining RNA processing and removal of introns in eukaryotic gene expression. Choquet explained that “RNA processing is essential for eukaryotic gene expression” […]
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