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Circularizing Genomes

Dylan Maghini from Stanford University presented at the Nanopore Community Meeting 2019 on “Genomes from metagenomes: assembling bacterial genomes with nanopore sequencing.” Maghini spoke about the importance of the human gut microbiome on human health. They noted that we still have an incomplete understanding of the gut microbiome. For example, de novo assembly aims to […]
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Nanopore Sequencing and Bacterial Genome Assembly

Mantas Sereika from Aalborg University in Germany presented at the Nanopore Community Meeting 2021 a session with a title that caught my attention tonight: “Nanopore R10.4 enables near-perfect bacterial genomes.” They spoke about Nanopore sequencing raw read accuracy improvements and issues with homopolymers. Insertions and deletions in homopolymer regions can be an issue causing frameshifts. […]
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MethPhaser and Improved Haplotype Phasing of Human Genomes

“MetaPhaser: methylation-based haplotype phasing of human genomes” is the title of the NCM Houston session I watched tonight. Yilei Fu from Rice University was the presenter. They began sharing how long reads provide more information about structural variations (SV) and help with assembly and phasing. Fu explained an example of thiopurine methyltransferase (TMPT) and how […]
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Streamlined Nanopore Sequencing

“Reveal more: bring streamlined nanopore sequencing into your lab” is the title of the Nanopore Community Meeting Houston session I watched tonight. Rachel Rubinstein, a Technical Product Manager, explained new developments to streamline nanopore sequencing. Rubinstein emphasized “end-to-end” processes. They began describing the range of the PromethION devices, from the P2 to the PromethION 48. […]
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ONT Workflows for the GREGoR Project

Medhat Mahmoud from the Baylor College of Medicine’s Human Genome Sequencing Center presented at the Nanopore Community Meeting in Houston a session titled “Unraveling complex Mendelian diseases with nanopore sequencing.” They are in the Sedlacek lab and spoke about GREGoR: Genomics Research to Elucidate the Genetics of Rare Diseases project. GREGoR includes five research centers […]
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GoT-Splice as Mutations Accumulate

Mariela Cortes Lopez from the Weil Cornell Medicine and New York Genome Center presented at the Nanopore Community Meeting in Houston about “GoT-Splice: unraveling cell-type-specific impact of splicing factor mutations.” Cortes Lopez is investigating mutations in splicing factors. They started by explaining that cells accumulate mutations with age and, therefore, the genomes of cells are […]
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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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Air Sampling and Metagenomic Sequencing

Christina Newman from the University of Wisconsin-Madison presented at the Nanopore Community Meeting in Houston on “Metagenomic sequencing of air samples to identify human viral pathogens.” Newman spoke about the loss of resolution of SARS-CoV-2 variants with the increased use of home kits. Newman noted that indoor air sampling could be used in schools to […]
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