Karen L Mungall
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Explore the profile of Karen L Mungall including associated specialties, affiliations and a list of published articles.
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58
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6387
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Recent Articles
1.
Haile S, Corbett R, ONeill K, Xu J, Smailus D, Pandoh P, et al.
Front Genet
. 2024 Dec;
15:1466338.
PMID: 39687742
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...
2.
Porter V, Ng M, ONeill K, MacLennan S, Corbett R, Culibrk L, et al.
Genome Res
. 2024 Dec;
PMID: 39638560
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...
3.
Takemon Y, Pleasance E, Gagliardi A, Hughes C, Csizmok V, Wee K, et al.
Genome Med
. 2024 Nov;
16(1):136.
PMID: 39578878
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...
4.
ONeill K, Pleasance E, Fan J, Akbari V, Chang G, Dixon K, et al.
Cell Genom
. 2024 Oct;
4(11):100674.
PMID: 39406235
The Long-Read Personalized OncoGenomics (POG) dataset comprises a cohort of 189 patient tumors and 41 matched normal samples sequenced using the Oxford Nanopore Technologies PromethION platform. This dataset from the...
5.
Cheng X, Goktas M, Williamson L, Krzywinski M, Mulder D, Swanson L, et al.
Brief Bioinform
. 2024 Sep;
25(5).
PMID: 39256198
Accurate assessment of fragment abundance within a genome is crucial in clinical genomics applications such as the analysis of copy number variation (CNV). However, this task is often hindered by...
6.
Deyell R, Shen Y, Titmuss E, Dixon K, Williamson L, Pleasance E, et al.
Nat Commun
. 2024 May;
15(1):4165.
PMID: 38755180
The role for routine whole genome and transcriptome analysis (WGTA) for poor prognosis pediatric cancers remains undetermined. Here, we characterize somatic mutations, structural rearrangements, copy number variants, gene expression, immuno-profiles...
7.
Porter V, ONeill K, MacLennan S, Corbett R, Ng M, Culibrk L, et al.
bioRxiv
. 2023 Nov;
PMID: 37961641
Human papillomavirus (HPV) integration has been implicated in transforming HPV infection into cancer, but its genomic consequences have been difficult to study using short-read technologies. To resolve the dysregulation associated...
8.
Xu J, Pandoh P, Corbett R, Smailus D, Bowlby R, Brooks D, et al.
Biotechniques
. 2023 Aug;
75(2):47-55.
PMID: 37551834
High-throughput total nucleic acid (TNA) purification methods based on solid-phase reversible immobilization (SPRI) beads produce TNA suitable for both genomic and transcriptomic applications. Even so, small RNA species, including miRNA,...
9.
Dixon K, Shen Y, ONeill K, Mungall K, Chan S, Bilobram S, et al.
Eur J Hum Genet
. 2023 Feb;
31(5):602-606.
PMID: 36797466
Germline structural variants (SVs) are challenging to resolve by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at cancer susceptibility loci has...
10.
Hendrikse L, Haldipur P, Saulnier O, Millman J, Sjoboen A, Erickson A, et al.
Nature
. 2022 Nov;
612(7940):E12.
PMID: 36446943
No abstract available.