Monitoring DNA molecules passing through a membrane pore is the basis of the Oxford Nanopore Technologies nanopore-based sequencing instruments. This innovative and highly flexible long-read technology allows transcriptome sequencing for the analysis of tissue-specific isoforms and splicing variants and genome sequencing for the detection of a wide range of genetic variants. Detection and characterization of structural variants and detection of larger genomic deletions, duplications, and complex rearrangements are of particular interest for ONT development. In addition, that technology allows simultaneous detection of epigenetic modifications contributing greatly to the analytical value of the sequencing.
During the last two years, the whole world has been challenged with fighting the COVID-19 pandemic and ONT sequencing technology has been at the forefront of this fight. Being cheap, mobile, and robust, ONT allowed sequencing of SARS-COV2 variants and contributed significantly to the breadth of knowledge of viral genomics in general.
We are inviting all papers and reviews which will shed light on the current methodology, library preparation and analysis of ONT data for these pressing science questions. We welcome manuscripts dealing with, but not limited to:
• The detection of problematic structural or splice variants in the human genome to help decipher complex human diseases
• The detection of tissue-specific transcription isoforms with long read ONT technologies in human diseases
• The viral genomics methodologies and advancements
Topic editor Dr. Kaplun is employed by Variantyx Inc, Framingham, MA. All other Topic Editors declare no competing interests with regards to the Research Topic subject.
Monitoring DNA molecules passing through a membrane pore is the basis of the Oxford Nanopore Technologies nanopore-based sequencing instruments. This innovative and highly flexible long-read technology allows transcriptome sequencing for the analysis of tissue-specific isoforms and splicing variants and genome sequencing for the detection of a wide range of genetic variants. Detection and characterization of structural variants and detection of larger genomic deletions, duplications, and complex rearrangements are of particular interest for ONT development. In addition, that technology allows simultaneous detection of epigenetic modifications contributing greatly to the analytical value of the sequencing.
During the last two years, the whole world has been challenged with fighting the COVID-19 pandemic and ONT sequencing technology has been at the forefront of this fight. Being cheap, mobile, and robust, ONT allowed sequencing of SARS-COV2 variants and contributed significantly to the breadth of knowledge of viral genomics in general.
We are inviting all papers and reviews which will shed light on the current methodology, library preparation and analysis of ONT data for these pressing science questions. We welcome manuscripts dealing with, but not limited to:
• The detection of problematic structural or splice variants in the human genome to help decipher complex human diseases
• The detection of tissue-specific transcription isoforms with long read ONT technologies in human diseases
• The viral genomics methodologies and advancements
Topic editor Dr. Kaplun is employed by Variantyx Inc, Framingham, MA. All other Topic Editors declare no competing interests with regards to the Research Topic subject.
