genomics

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Understanding Structural Variants in Cancer Genomes

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. […]
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Understanding Copy Number Variations in Intraoperative Brain Tumor Detection

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 […]
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Innovations in Genetic Testing: The CRDC’s Impact

Wanqing Shao from Boston Children’s Hospital presented at the Nanopore Community Meeting on “Maximizing the power of genomic sequencing in pediatric rare disease.” Shao is a Genomics Scientist working in a collaborative team: the Children’s Rare Disease Collaborative (CRDC). They are interested in rare and complex diseases that are often misdiagnosed. Shao also noted that […]
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Understanding Long-Read Phasing Methods in Genomics

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 […]
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Revolutionizing Genetic Research: needLR Tool Explained

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 […]
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Understanding the NO-MISS Workflow for Microbial Sequencing

Tonight, I watched the second half of a new Knowledge Exchange session focusing on “Sequencing and analysis of nanopore-only microbial isolates with the NO-MISS workflow.” Different extraction methods produced varying yields. Bead-beating and enzymatic lysis extractions affect read length and throughput, while fungal samples produce lower yields. Some potential issues include incomplete lysis and contaminants. Additional clean-up […]
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Advancements in Nanopore Sequencing for Microbial Genomics

I continued watching the “Enhanced microbial profiling and metagenomics with nanopore sequencing” webinar. The second speaker was Steven Batinovic, a Field Application Scientist with Oxford Nanopore Technologies (ONT). The title of their session was “What you’re missing matters: delivering the future of microbial genomics with Oxford Nanopore.” Batinovic started by listing the microbiology and infectious […]
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Exploring EPI2ME: Bioinformatics for Genomic Characterization

Tonight, I continued watching the ONT webinar I started last night, which focused on scalable human genomic characterization with nanopore sequencing. The second speaker was Anthony Doran, Associate Director of Bioinformatics Field Applications with Oxford Nanopore Technologies. Doran’s session was titled “Bioinformatics from beginner to production: EPI2ME, Oxford Nanopore’s data analysis platform.” ONT’s theme this […]
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Real-time Genomic Characterization of Pediatric Acute Leukemia: UNC Research

The second talk in the session I started watching yesterday was by a postdoctoral fellow from UNC. Julie Geyer from the University of North Carolina Chapel Hill School of Medicine described their research. The title of the talk was “Real-time genomic characterization of pediatric acute leukemia using adaptive sampling.” Leukemia is cancer of the blood. […]
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Genomics England and ONT

I continued watching a longer session from Oxford Nanopore Technologies (ONT) summer programming tonight. “The era of complete genomes, at any scale” was the title of a session Cora Vaher gave. They talked about how methylation can be detected without additional library preparation. Haplotype-specific methylation could be very useful in learning about genetic diseases. Vaher shared a […]
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