adaptive sampling

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Updates from the ONT Applications Team

Dan Turner SVP of the Applications Team at Oxford Nanopore Technologies, presented the update from the Apps Team. Turner summarized the use of Nanopore data for clinical whole-genome sequencing of rare diseases and cancer with the goal of identifying relevant variants. Turner explained that although rare diseases are rare by definition, there are over 3,000 […]
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Single-cell Mutation Profiling and Engineering

“A single-cell approach to cancer mutation discovery and CRISPR phenotypic modeling” was the title of the London Calling 2023 session by Hanlee Ji from Stanford University. Ji spoke about the use of single cell genomics and variant analysis. They spoke about how cancer mutations and clonal variation can be detected. In addition, CRISPR technologies allow […]
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Long-read Sequencing Lessons from Genomics Thailand

“Filling the gap with long-read sequencing: lessons from Genomics Thailand” is the title of the London Calling session I watched tonight. The speaker was Manop Pithukpakorn from Siriraj Genomics at Mahidol University in Thailand. They spoke about the similarities of the program and Genomics England. The aim of Genomics Thailand is to implement genomics medicine […]
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Sequencing Alleles Involved in Undiagnosed Inherited Neuropathies

Marina Kennerson from The ANZAC Research Institute in Australia spoke at London Calling 2023 about “Solving genetically undiagnosed inherited neuropathy families: long-read sequencing to the rescue.” Inherited peripheral neuropathies (IPN), Kennerson explained, can be divided into hereditary motor neuropathies (HMN), hereditary sensory neuropathies (HSN), and hereditary motor and sensory neuropathies (HMSN). Kennerson noted that HMSN […]
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Retrotransposon Insertions in Rare Diseases

Belen de la Morena-Barrio from the University of Murcia, Spain presented at London Calling 2023 on “Nanopore sequencing reveals retrotransposon insertions or complex genetic mechanisms in four rare disorders.” Morena-Barrio spoke about the impact of “rare” diseases and the challenges of diagnosis. They noted that often it takes four or five years for accurate diagnosis […]
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Barcode-aware Sequencing

Alexander Payne from the University of Nottingham in the UK presented at the 2021 Nanopore Community Meeting about “Barcode-specific adaptive sampling – from human gene panels to viral amplicons.” They spoke about ReadFish or “Read Until” which is an adaptive sampling toolkit. They ran an experiment with four different species to test adaptive sampling for […]
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Genomic Technologies for STR Analysis

Ira Deveson from The Garvan Institute of Medical Research in Australia presented at the Nanopore Community Meeting 2021 on “Towards comprehensive genetic diagnosis of repeat expansion disorders with targeted nanopore sequencing.” Deveson spoke about the ReadUntil function also known as adaptive sampling to selectively sequence molecules. Short tandem repeats (STRs) are 2-12 bp sequence motifs […]
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Multiple Sequencing Approaches for HPV Analyses

Nicole Rossi & Michael Dean presented at Nanopore Community Meeting 2021 on: “Resolution of complex human papillomavirus and human sequences.” Rossi and Dean are from the National Cancer Institute. Rossi spoke about the impact of human papilloma virus (HPV). Cervical cancer causes numerous deaths. The HPV genome has two oncogenes and promotes genome instability. HPV […]
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Rapid-CNS2

Tonight I watched the Nanopore Community Meeting 2021 recording featuring Areeba Patel and titled “Rapid-CNS2: rapid, comprehensive adaptive nanopore sequencing of central nervous system (CNS) tumours.” Patel is at the German Cancer Research Center (DKFZ) and the University Hospital Heidelberg, Germany. Patel spoke about the use of molecular diagnostics for CNS tumors. They noted the […]
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