Article
Biochemical Research Methods
Jixiang Yu, Nanjun Chen, Zetian Zheng, Ming Gao, Ning Liang, Ka-Chun Wong
Summary: The detection of chromothripsis events can be inferred from CNV data using structure learning and a neural network based on Graph Transformer. This proposed method provides a reliable and accurate approach to detect chromothripsis.
Article
Biochemical Research Methods
Xizhi Luo, Fei Qin, Guoshuai Cai, Feifei Xiao
Summary: The LD structure is related to the distribution of CNVs, demonstrating a non-random pattern on the genome. The LDcnv algorithm, incorporating genetic dependence structure, shows high accuracy and precision in CNV detection, especially for short CNVs. Extensive simulations and analysis of large-scale datasets support the effectiveness of LDcnv in integrating biological structure for CNV detection.
Article
Agriculture, Dairy & Animal Science
Harshit Kumar, Manjit Panigrahi, K. A. Saravanan, Divya Rajawat, Subhashree Parida, Bharat Bhushan, G. K. Gaur, Triveni Dutt, B. P. Mishra, R. K. Singh
Summary: This study used the Illumina BovineSNP 50 K BeadChip to detect copy number variations (CNVs) in the Tharparkar cattle genome and identified 447 CNV regions. These findings provide crucial information for a better understanding of the indigenous cattle genome.
ANIMAL BIOTECHNOLOGY
(2023)
Article
Biochemical Research Methods
Joseph T. Glessner, Xiurui Hou, Cheng Zhong, Jie Zhang, Munir Khan, Fabian Brand, Peter Krawitz, Patrick M. A. Sleiman, Hakon Hakonarson, Zhi Wei
Summary: Copy number variations (CNVs) are important in disease pathogenesis, but detection and validation remain challenging. DeepCNV, a deep learning-based tool, improves CNV call accuracy and reduces false positives and failures in CNV-disease association results.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Biology
Xuan Wang, Junqing Li, Tihao Huang
Summary: This paper proposes an improved CNV detection method called CNVABNN, which achieves better results in terms of precision, sensitivity, and F1-score for both simulated and real samples. The method adds detectable categories, utilizes the idea of integrated learning, and optimizes the detection process.
COMPUTATIONAL BIOLOGY AND CHEMISTRY
(2022)
Article
Genetics & Heredity
Tihao Huang, Junqing Li, Baoxian Jia, Hongyan Sang
Summary: The research proposed an improved CNV detection method CNV-MEANN, which adjusts the neural network structure, utilizes a new feature mapping quality, considers the impact of CNV loss categories on disease prediction, and optimizes the neural network model using a mind evolutionary algorithm, successfully improving the performance of CNV detection methods.
FRONTIERS IN GENETICS
(2021)
Article
Biochemical Research Methods
Chirag Jain, Arang Rhie, Nancy F. Hansen, Sergey Koren, Adam M. Phillippy
Summary: Approximately 5-10% of the human genome is inaccessible due to the presence of repetitive sequences. Existing long-read mappers often yield incorrect alignments and variant calls within repetitive sequences. To address this issue, a new long-read mapping method called Winnowmap2 was developed, which is more tolerant of structural variation and more sensitive to paralog-specific variants within repeats.
Article
Medical Laboratory Technology
Ping Tan, Dandan Li, Lu Chang, Jiping Shi, Yanxi Han, Rui Zhang, Jinming Li
Summary: To evaluate the current situation of expanded noninvasive prenatal screening (NIPS) for copy number variations (CNVs) in laboratories in China, an external quality assessment (EQA) program was conducted. The EQA panel consisted of 12 artificial samples associated with different syndromes and was distributed to 69 laboratories. The results showed that the detection capabilities of NIPS for CNVs still need improvement and standardization.
CLINICAL BIOCHEMISTRY
(2023)
Article
Biology
Xiya Zhou, Xiangbin Chen, Yulin Jiang, Qingwei Qi, Na Hao, Chengkun Liu, Mengnan Xu, David S. Cram, Juntao Liu
Summary: This study introduces a rapid CNV-sequencing method for clinical prenatal diagnosis, demonstrating its reliability, accuracy, and reproducibility in detecting a range of common chromosomal abnormalities. Clinical testing confirmed its effectiveness in identifying known chromosome disorders in prenatal samples, suggesting its potential for widespread application in NGS-based diagnostic laboratories.
Article
Dermatology
Q. Zhen, Y. Zhang, Y. Yu, H. Yang, T. Zhang, X. Li, X. Mo, B. Li, J. Wu, Y. Liang, H. Ge, Q. Xu, W. Chen, W. Qian, H. Xu, G. Chen, B. Bai, J. Zhang, Y. Lu, S. Chen, H. Zhang, X. Chen, X. Jin, X. Lin, L. Yong, M. Fang, J. Zhao, S. Wu, D. Jiang, J. Shi, H. Cao, Y. Qiu, S. Li, X. Kang, J. Shen, H. Ma, S. Sun, Y. Fan, M. Bai, Q. Jiang, W. Li, C. Lv, M. Chen, F. Li, Y. Li, L. Sun
Summary: The study identified novel structural variations (SVs) associated with psoriasis through genome-wide screening, enriching the understanding of the genetic architecture and pathogenesis of the disease. The impact of SVs on complex diseases, such as psoriasis, was highlighted, emphasizing the importance of considering SVs in genetic studies of complex diseases.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Yu Chen, Amy Y. Wang, Courtney A. Barkley, Yixin Zhang, Xinyang Zhao, Min Gao, Mick D. Edmonds, Zechen Chong
Summary: The authors developed DeBreak, an algorithm for comprehensive and accurate structural variant (SV) detection in long-read sequencing data, which outperforms existing SV callers.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Md. Panir Choudhury, Zihao Wang, Min Zhu, Shaohua Teng, Jing Yan, Shuwei Cao, Guoqiang Yi, Yuwen Liu, Yuying Liao, Zhonglin Tang
Summary: This study conducted a comprehensive analysis of copy number variations (CNVs) in different horse breeds, and identified genomic regions associated with miniature features. Functional annotation revealed the biological functions and adaptations related to these CNVs.
Article
Biotechnology & Applied Microbiology
Kangqi Lv, Dayang Chen, Dan Xiong, Huamei Tang, Tong Ou, Lijuan Kan, Xiuming Zhang
Summary: This study developed a functional deleteriousness-based model of CNV (dbCNV) to predict the pathogenicity of CNVs and provide a deeper understanding of the pathogenic mechanism.
Article
Neurosciences
Kamila Szecowka, Blazej Misiak, Izabela Laczmanska, Dorota Frydecka, Ahmed A. Moustafa
Summary: Schizophrenia is a neurodevelopmental disorder influenced by genetic and environmental factors. Understanding the genetic liability contributing to schizophrenia could lead to improved therapy and new treatment methods. Research focuses on genetic variants, such as copy number variations (CNVs) or single-nucleotide variants (SNVs). Certain CNVs, such as those associated with 22q11.2 microdeletion syndrome or 1q21.1 microduplication/microdeletion syndrome, increase the risk of developing schizophrenia. This article provides a unifying framework linking these CNVs and associated genetic disorders to schizophrenia and its various neural and behavioral abnormalities.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Oncology
Jan Barinka, Zunsong Hu, Lu Wang, David A. Wheeler, Delaram Rahbarinia, Clay McLeod, Zhaohui Gu, Charles G. Mullighan
Summary: In this study, the authors describe a method called RNAseqCNV for detecting CNVs from RNA-seq data. They used models based on gene expression and minor allele frequency to accurately classify CNVs in ALL and AML. The results showed that RNAseqCNV outperforms other algorithms in detecting CNVs in the ALL dataset and the calls were highly concordant with DNA-based CNV results.
Article
Statistics & Probability
Yue S. Niu, Ning Hao, Heping Zhang
STATISTICAL SCIENCE
(2016)
Article
Chemistry, Analytical
Joon Hyuk Suh, Yue S. Niu, Wei-Lun Hung, Chi-Tang Ho, Yu Wang
Article
Agriculture, Multidisciplinary
Joon Hyuk Suh, Yue S. Niu, Zhibin Wang, Frederick G. Gmitter, Yu Wang
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2018)
Article
Statistics & Probability
Yue Selena Niu, Ning Hao, Bin Dong
Article
Mathematical & Computational Biology
Yue Selena Niu, Ning Hao, Hao Helen Zhang
STATISTICS AND ITS INTERFACE
(2018)
Article
Statistics & Probability
Jianqing Fan, Yang Feng, Yue S. Niu
ANNALS OF STATISTICS
(2010)
Article
Genetics & Heredity
Joan E. Bailey-Wilson, Jennifer S. Brennan, Shelley B. Bull, Robert Culverhouse, Yoonhee Kim, Yuan Jiang, Jeesun Jung, Qing Li, Claudia Lamina, Ying Liu, Reedik Maegi, Yue S. Niu, Claire L. Simpson, Libo Wang, Yildiz E. Yilmaz, Heping Zhang, Zhaogong Zhang
GENETIC EPIDEMIOLOGY
(2011)
Article
Statistics & Probability
Ning Hao, Yue Selena Niu, Heping Zhang
Article
Biochemical Research Methods
Feifei Xiao, Xizhi Luo, Ning Hao, Yue S. Niu, Xiangjun Xiao, Guoshuai Cai, Christopher Amos, Heping Zhang
Article
Mathematical & Computational Biology
Ning Hao, Yue Selena Niu, Feifei Xiao, Heping Zhang
Summary: This paper presents a super scalable short segment detection algorithm that can effectively identify short segments hidden in long sequences and assign significance levels to the detected segments. The algorithm is computationally efficient, does not rely on Gaussian noise assumption, and demonstrates advantages through theoretical, simulation, and real data studies.
STATISTICS IN BIOSCIENCES
(2021)
Article
Biochemical Research Methods
Jianqing Fan, Yue Niu