Genomics in the long-read sequencing era

EL van Dijk, D Naquin, K Gorrichon, Y Jaszczyszyn… - Trends in Genetics, 2023 - cell.com
Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …

Most large structural variants in cancer genomes can be detected without long reads

ZN Choo, JM Behr, A Deshpande, K Hadi, X Yao… - Nature Genetics, 2023 - nature.com
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

Extrachromosomal DNA: Biogenesis and Functions in Cancer

EJ Curtis, JC Rose, PS Mischel… - Annual Review of …, 2024 - annualreviews.org
In cancer, oncogenes can untether themselves from chromosomes onto circular,
extrachromosomal DNA (ecDNA) particles. ecDNA are common in many of the most …

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… - Cell Genomics, 2024 - cell.com
Summary The Long-Read Personalized OncoGenomics (POG) dataset comprises a cohort
of 189 patient tumors and 41 matched normal samples sequenced using the Oxford …

[HTML][HTML] HPV16 genome structure analysis in oropharyngeal cancer PDXs identifies tumors with integrated and episomal genomes

CD James, RO Otoa, AH Youssef, CT Fontan… - Tumour Virus …, 2024 - Elsevier
HPV+ oropharyngeal squamous cell carcinoma (OPC) incidence recently surpassed
cervical cancer and is the most common HPV-related cancer in the developed world. HPV16 …

[HTML][HTML] Targeting PARP for the optimal immunotherapy efficiency in gynecologic malignancies

T Li, X Wang, S Qin, B Chen, M Yi, J Zhou - Biomedicine & …, 2023 - Elsevier
Gynecologic cancer, which includes ovarian, cervical, endometrial, vulvar, and vaginal
cancer, is a major health concern for women all over the world. Despite the availability of …

Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing

I Rodriguez, NM Rossi, AG Keskus, Y **e… - The American Journal of …, 2024 - cell.com
Cervical cancer is caused by human papillomavirus (HPV) infection, has few approved
targeted therapeutics, and is the most common cause of cancer death in low-resource …

Impact and characterization of serial structural variations across humans and great apes

W Höps, T Rausch, M Jendrusch, JO Korbel… - Nature …, 2024 - nature.com
Modern sequencing technology enables the systematic detection of complex structural
variation (SV) across genomes. However, extensive DNA rearrangements arising through a …

Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer

N Sasa, T Kishikawa, M Mori, R Ito, Y Mizoro… - Nature …, 2025 - nature.com
Integration of human papillomavirus (HPV) into the host genome drives HPV-positive head
and neck squamous cell carcinoma (HPV+ HNSCC). Whole-genome sequencing of 51 …

Genome Instability Precedes Viral Integration in Human Papillomavirus–Transformed Tonsillar Keratinocytes

K Chan, C Tseng, E Milarachi, D Goldrich… - Molecular Cancer …, 2025 - aacrjournals.org
Approximately 70% of oropharyngeal squamous carcinomas (OPSCC) are associated with
human papillomavirus (HPV). Although patients with HPV-positive (HPV+) tumors generally …