[HTML][HTML] DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

O Pös, J Radvanszky, G Buglyó, Z Pös, D Rusnakova… - biomedical …, 2021 - Elsevier
Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …

Hereditary nonpolyposis colorectal cancer and cancer syndromes: recent basic and clinical discoveries

E Chen, X Xu, T Liu - Journal of oncology, 2018 - Wiley Online Library
Approximately one‐third of individuals diagnosed with colorectal cancer have a family
history of cancer, suggesting that CRCs may result from a heritable component. Despite the …

Evolution and function of developmentally dynamic pseudogenes in mammals

SH Qian, L Chen, YL Xiong, ZX Chen - Genome Biology, 2022 - Springer
Background Pseudogenes are excellent markers for genome evolution, which are emerging
as crucial regulators of development and disease, especially cancer. However, systematic …

The long-term survival characteristics of a cohort of colorectal cancer patients and baseline variables associated with survival outcomes with or without time-varying …

Y Yu, M Carey, W Pollett, J Green, E Dicks, P Parfrey… - BMC medicine, 2019 - Springer
Background Colorectal cancer is the third most common cancer in the world. In this study,
we assessed the long-term survival characteristics and prognostic associations and …

[HTML][HTML] Violations of proportional hazard assumption in Cox regression model of transcriptomic data in TCGA pan-cancer cohorts

Z Zeng, Y Gao, J Li, G Zhang, S Sun, Q Wu… - Computational and …, 2022 - Elsevier
Background Cox proportional hazard regression (CPH) model relies on the proportional
hazard (PH) assumption: the hazard of variables is independent of time. CPH has been …

[HTML][HTML] DPY30 promotes proliferation and cell cycle progression of colorectal cancer cells via mediating H3K4 trimethylation

WC Su, XM Mao, SY Li, CY Luo, R Fan… - … journal of medical …, 2023 - ncbi.nlm.nih.gov
DPY30, a core subunit of the SET1/MLL histone H3K4 methyltransferase complexes, plays
an important role in diverse biological functions through the epigenetic regulation of gene …

A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer

Y Yu, S Werdyani, M Carey, P Parfrey… - Molecular …, 2021 - Wiley Online Library
We aimed to examine the associations of a genome‐wide set of single nucleotide
polymorphisms (SNPs) and 254 copy number variations (CNVs) and/or insertion/deletions …

Long-insert sequence capture detects high copy numbers in a defence-related beta-glucosidase gene βglu-1 with large variations in white spruce but not Norway …

TH Hung, ETY Wu, P Zeltiņš, Ā Jansons, A Ullah… - BMC genomics, 2024 - Springer
Conifers are long-lived and slow-evolving, thus requiring effective defences against their fast-
evolving insect natural enemies. The copy number variation (CNV) of two key acetophenone …

Concordance rate between copy number variants detected using either high-or medium-density single nucleotide polymorphism genotype panels and the potential of …

P Rafter, IC Gormley, AC Parnell, JF Kearney, DP Berry - BMC genomics, 2020 - Springer
Background The trading of individual animal genotype information often involves only the
exchange of the called genotypes and not necessarily the additional information required to …

Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data

P Rafter, DC Purfield, DP Berry… - Journal of Animal …, 2018 - academic.oup.com
Copy number variants (CNV s) are a form of genomic variation that changes the structure of
the genome through deletion or duplication of stretches of DNA. The objective of the present …