Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase V Akbari, JM Garant, K O’Neill, P Pandoh, R Moore, MA Marra, M Hirst, ... Genome biology 22, 1-21, 2021 | 61 | 2021 |
Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing V Akbari, JM Garant, K O'Neill, P Pandoh, R Moore, MA Marra, M Hirst, ... Elife 11, e77898, 2022 | 48 | 2022 |
Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq V Akbari, VCT Hanlon, K O’Neill, L Lefebvre, KA Schrader, PM Lansdorp, ... Cell Genomics 3 (1), 2023 | 23 | 2023 |
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome A Amirian, SM Dalili, Z Zafari, S Saber, M Karimipoor, V Akbari, ... Iranian journal of basic medical sciences 21 (1), 108, 2018 | 8 | 2018 |
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes K O’Neill, E Pleasance, J Fan, V Akbari, G Chang, K Dixon, V Csizmok, ... Cell Genomics 4 (11), 2024 | 7 | 2024 |
Transcriptome mining of non‐BRCA1/A2 and BRCA1/A2 familial breast cancer V Akbari, M Kallhor, MT Akbari Journal of Cellular Biochemistry 120 (1), 575-583, 2019 | 6 | 2019 |
Genomic structures and regulation patterns at HPV integration sites in cervical cancer VL Porter, K O’Neill, S MacLennan, RD Corbett, M Ng, L Culibrk, ... bioRxiv, 2023.11. 04.564800, 2023 | 4 | 2023 |
Transcriptome and Network Dissection of Microsatellite Stable and Highly Instable Colorectal Cancer V Akbari, M Kallhor, B Mollashahi, A Abolfazl Asian Pacific Journal of Cancer Prevention: APJCP 20 (8), 2445, 2019 | 4 | 2019 |
Development and diversity of a novel panel of short tandem repeat markers encompassing the SCN5A gene in Iranian population Z Zafari, A Amirian, F Rahimi Nejad, V Akbari, MT Akbari, S Zeinali Journal of Genetics, 2018 | 2 | 2018 |
Profiling chromatin accessibility in humans using adenine methylation and long-read sequencing V Akbari, S Leelakumari, SJM Jones BioRxiv, 2023.10. 05.561129, 2023 | 1 | 2023 |
IMPALA: A Comprehensive Pipeline for Detecting and Elucidating Mechanisms of Allele Specific Expression in Cancer G Chang, V Porter, K O'Neill, L Culibrk, V Akbari, MA Marco, S Jones bioRxiv, 2023.09. 11.555771, 2023 | 1 | 2023 |
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes V Akbari, S Dada, Y Shen, K Dixon, D Hejla, A Galbraith, S Choufani, ... Journal of Medical Genetics 62 (1), 32-36, 2025 | | 2025 |
Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation VL Porter, M Ng, K O'Neill, S MacLennan, RD Corbett, L Culibrk, ... Genome Research, gr. 279041.124, 2024 | | 2024 |
Uncovering the complexity of structural variants in four individuals with Autism Spectrum Disorder S Dada, K Dixon, V Akbari, CJ Grisdale, K Calli, S Martell, C Reisle, ... Genome, 2024 | | 2024 |
Accurate parent-of-origin variant assignment for multiple hereditary cancer syndromes using proband-only blood sample analysis. KA Schrader, V Akbari, V Hanlon, T Leung, K Dixon, K O'Neill, A Roston, ... Journal of Clinical Oncology 42 (16_suppl), 10516-10516, 2024 | | 2024 |
Method and apparatus for parent-of-origin disease allele detection for the diagnosis and management of genetic diseases P Lansdorp, K Schrader, S Jones, V Hanlon, V Akbari, K O'neill US Patent App. 18/518,079, 2024 | | 2024 |
P658: Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample K Schrader, V Akbari, V Hanlon, T Leung, K Dixon, K O’Neill, A Roston, ... Genetics in Medicine Open 2, 2024 | | 2024 |
Accurate inference of parent-of-origin of pathogenic variants in SDHD without parental data K Schrader, V Akbari, V Hanlon, K Dixon, K O'Neill, Y Shen, A Sharma, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 626-626, 2024 | | 2024 |
Detecting DNA methylation using nanopore sequencing: from genome-wide analysis to haplotype-resolved and parent-of-origin phasing V Akbari University of British Columbia, 2023 | | 2023 |
O35: Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants in SDHD without parental data K Schrader, V Akbari, V Hanlon, K Dixon, K O’Neill, Y Shen, A Sharma, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |