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Kieran ONeill

Explore the profile of Kieran ONeill including associated specialties, affiliations and a list of published articles. Areas
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Articles 27
Citations 411
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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.
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...
4.
Paulin L, Fan J, ONeill K, Pleasance E, Porter V, Jones S, et al.
medRxiv . 2024 Apr; PMID: 38562786
The complexities of cancer genomes are becoming more easily interpreted due to advancements in sequencing technologies and improved bioinformatic analysis. Structural variants (SVs) represent an important subset of somatic events...
5.
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...
6.
Chang G, Jones S, Leelakumari S, Ashkani J, Culibrk L, ONeill K, et al.
F1000Res . 2023 Jul; 12:336. PMID: 37455852
We present a genome assembly of (the Loggerhead sea turtle; Chordata, Testudines, Cheloniidae), generated from genomic data from two unrelated females. The genome sequence is 2.13 gigabases in size. The...
7.
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...
8.
Akbari V, Hanlon V, ONeill K, Lefebvre L, Schrader K, Lansdorp P, et al.
Cell Genom . 2023 Feb; 3(1):100233. PMID: 36777186
Hundreds of loci in human genomes have alleles that are methylated differentially according to their parent of origin. These imprinted loci generally show little variation across tissues, individuals, and populations....
9.
Akbari V, Garant J, ONeill K, Pandoh P, Moore R, Marra M, et al.
Elife . 2022 Jul; 11. PMID: 35787786
Imprinting is a critical part of normal embryonic development in mammals, controlled by defined parent-of-origin (PofO) differentially methylated regions (DMRs) known as imprinting control regions. Direct nanopore sequencing of DNA...
10.
Chin H, ONeill K, Louie K, Brown L, Schlade-Bartusiak K, Eydoux P, et al.
Am J Med Genet A . 2021 May; 185(8):2541-2545. PMID: 34018669
Prenatal detection of structural variants of uncertain significance, including copy number variants (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification and phenotypic...