We’ve been discussing the direct RNA sequencing kit and process in class. Tonight, I watched Bronya Boydon, Machine Learning Bioinformatician with Oxford Nanopore Technologies, provide the “Direct RNA basecaller update” as part of the Nanopore Community Meeting. Boydon described how RNA is translocated through the pore. Direct RNA has the benefits of long reads, simplicity, […]
Michael Dean from the National Cancer Institute presented at the Nanopore Community Meeting in Boston on “Diverse structural variants cluster near breakage-fusion-bridge site in cancer genomes.” Dean spoke about oncogene amplification and the need for high-quality cancer genomes for SV analysis. They have developed a standard extraction method with size selection to obtain long reads. […]
Chun-Chieh Lin from Dartmouth Health spoke at the Nanopore Community Meeting in Boston on “Nanopore-based random genomic sampling for intraoperative diagnosis of brain tumors and beyond.” They focused on copy number and methylation alterations. Lin explained that copy number variation (CNV) is a common variant. Current approaches are karyotyping and comparative genomic hybridization, targeted with […]
Nikhita Damaraju from the University of Washington in Seattle presented at the Nanopore Community Meeting in Boston. The session’s title was “Evaluating the quality of long-read phasing methods in clinically relevant genes.” They explained that variants are inherited in equal measure. Damaraju defined phasing as the process of assigning variants to parental copies. Understanding which […]
J. (Gus) Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Boston about “needLR: a structural variant filtering and prioritization tool for long-read sequencing data.” They noted that half of suspected Mendelian conditions remain undiagnosed after current clinical testing methods. The Miller Lab at the University of Washington uses Oxford Nanopore […]
Tonight, I watched Qiliang (Andy) Ding from the Mayo Clinic present at the Nanopore Community Meeting in Boston. The session’s title was “Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing.” Ding is a Laboratory Genomics Fellow. Ding noted that the DMD gene encodes dystrophin, an essential protein for muscle function. This gene is associated […]
Karine Choquet from the University of Sherbrooke in Canada presented at the Nanopore Community Meeting in Boston. The session’s title is “Genetic regulation of nascent RNA maturation revealed by direct RNA sequencing.” Newly synthesized RNAs are exported to the cytoplasm for translation. The research team was interested in learning more about RNA processing and poly(A) […]
Alisa MacCalman from the University of Exeter in the UK presented at the Nanopore Community Meeting in Boston this year. The title of the session is “Understanding the binding of multiple transcription factors by base-pair-resolution chromatin accessibility.” The lab is interested in regulatory regions of the genome and how they help encode the diversity of […]
Gabriela Pozo from the University of San Francisco de Quito in Ecuador presented at the Nanopore Community Meeting in Boston. The session’s title was “Obtaining reference genomes of emblematic and endangered Ecuadorian species.” Pozo noted that Ecuador is one of the seventeen megadiverse countries globally. However, conservation efforts are also needed. Genomics, noted Pozo, can […]
Dmitrijs Rots from Erasmus MC in the Netherlands presented at the Nanopore Community Meeting in Boston (NCM Boston 2024) on “DNA methylation signature detection using ultra-rapid, long-read nanopore genome sequencing.” Rots mentioned that Erasmus MC is one of the largest hospitals in Europe! The team wanted to implement nanopore sequencing to test for methylation and […]