Publications by authors named "K L Mungall"

The advent of long-read (LR) sequencing technologies has provided a direct opportunity to determine the structure of transcripts with potential for end-to-end sequencing of full-length RNAs. LR methods that have been described to date include commercial offerings from Oxford Nanopore Technologies (ONT) and Pacific Biosciences. These kits are based on selection of polyadenylated (polyA+) RNAs and/or oligo-dT priming of reverse transcription.

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Human papillomavirus (HPV) integration has been implicated in transforming HPV infection into cancer. To resolve genome dysregulation associated with HPV integration, we performed Oxford Nanopore long-read sequencing on 72 cervical cancer genomes from an Ugandan dataset that was previously characterized using short-read sequencing. We found recurrent structural rearrangement patterns at HPV integration events, which we categorized as: del(etion)-like, dup(lication)-like, translocation, multibreakpoint, or repeat region integrations.

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Background: Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene function and vulnerabilities conferred by such mutations are required.

Methods: Here, we computationally map genetic networks of KMT2D, a tumour suppressor gene frequently mutated in several cancer types.

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Article Synopsis
  • The Long-Read Personalized OncoGenomics (POG) dataset features 189 patient tumors and 41 matched normal samples, sequenced with Oxford Nanopore Technologies, providing a comprehensive resource for cancer research.
  • It highlights the advantages of long-read sequencing in identifying complex structural variants, viral integrations, and specific DNA behaviors, such as prominent methylation patterns associated with various cancers.
  • The findings underscore the potential of this dataset in precision medicine, serving as a tool for advancing analytical techniques in cancer genomics.
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