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Copy number variation

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

Shiwei Ren, Wenjing Gu, Ting Liu, Jinyan Yan, Haixin Dong, Chuchu Niu, Lizhu Guo, Huan Guo

published 28 Oct 2025

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Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies

Jianxin Zhen, Liting Zhang, Huilin Wang, Xi Chen, Weihong Wang, Lili Li, Quanfu Zhang

published 18 Aug 2025

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Exploring the level of metabolic reprogramming and the role of prognostic factor SF3A3 in hepatocellular carcinoma through integrated single-cell landscape analysis

Wanshuo Wei, Yuan Gan, Xindan Zhang, Yumo Chen, Zengfeng Huang, Shuhan Wang, Xiaomei Xie, Yongle Li, Pengtao Qin, Lihe Jiang

published 27 May 2025

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A retrospective analysis of prenatal genetic results in fetal hydronephrosis

Keqin Jin, Xiayuan Xu, Yue Qian, Liping Zhang, Min Hu, Jianfeng Luo

published 22 May 2025

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Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma

Wantakan Ngamsangiam, Sutheemon Techa-ay, Prakasit Sa-ngiamwibool, Sasithorn Watcharadetwittaya, Raksawan Deenonpoe, Anchalee Techasen, Natruja Sridakhun, Sureerat Padthaisong, Malinee Thanee

published 12 May 2025

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Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression

Ozge Sidekli, Edward J. Hollox, Sean Fair, Kieran G. Meade

published 25 Feb 2025

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Plasmodium falciparum surf_4.1 in clinical isolates: From genetic variation and variant diversity to in silico design immunopeptides for vaccine development

Nitchakarn Noranate, Jariya Sripanomphong, Fingani Annie Mphande- Nyasulu, Suwanna Chaorattanakawee

published 30 Dec 2024

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Molecular and cytogenetic characterization of Osteospermum fruticosum lines harboring wild type pRi rol genes

Siel Desmet, Katrijn Van Laere, Johan Van Huylenbroeck, Danny Geelen, Ellen De Keyser, Emmy Dhooghe

published 19 Sep 2024

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DeepDRA: Drug repurposing using multi-omics data integration with autoencoders

Taha Mohammadzadeh-Vardin, Amin Ghareyazi, Ali Gharizadeh, Karim Abbasi, Hamid R. Rabiee

published 26 Jul 2024

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A framework for block-wise missing data in multi-omics

Sergi Baena-Miret, Ferran Reverter, Esteban Vegas

published 23 Jul 2024

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Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda

published 24 Jun 2024

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Copy number variant scan in more than four thousand Holstein cows bred in Lombardy, Italy

Andrea Delledonne, Chiara Punturiero, Carlotta Ferrari, Francesca Bernini, Raffaella Milanesi, Alessandro Bagnato, Maria G. Strillacci

published 21 May 2024

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De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam

Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen

published 07 Mar 2024

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