Results 51 to 60 of about 790,983 (253)

Noise cancellation using total variation for copy number variation detection

BMC Bioinformatics, 2018
Background Due to recent advances in sequencing technologies, sequence-based analysis has been widely applied to detecting copy number variations (CNVs).
Fatima Zare, Abdelrahman Hosny, Sheida Nabavi   +2 more
doaj   +1 more source

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing

Frontiers in Endocrinology, 2023
IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai, Qi Zhang, Zhi Lin, Jin Ye, Xiaoqi Shen, Linshuang Zhou, Wenpin Cai   +6 more
doaj   +1 more source

Family-Based Benchmarking of Copy Number Variation Detection Software. [PDF]

PLoS ONE, 2015
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases.
Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel   +6 more
doaj   +1 more source

A large data resource of genomic copy number variation across neurodevelopmental disorders

npj Genomic Medicine, 2019
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV ...
M. Zarrei, Christie L. Burton, W. Engchuan, Edwin J. Young, E. Higginbotham, J. MacDonald, Brett Trost, A. Chan, S. Walker, S. Lamoureux, T. Heung, Bahareh A. Mojarad, B. Kellam, Tara Paton, Muhammad Faheem, Karin Miron, Chao Lu, Ting Wang, Kozue Samler, Xiaolin Wang, Gregory Costain, N. Hoang, G. Pellecchia, John Wei, R. Patel, B. Thiruvahindrapuram, Maian Roifman, D. Merico, T. Goodale, Irene Drmic, M. Speevak, J. Howe, R. Yuen, J. Buchanan, Jacob A. S. Vorstman, Christian R. Marshall, R. Wintle, David R. Rosenberg, Gregory L. Hanna, Marc Woodbury-Smith, C. Cytrynbaum, L. Zwaigenbaum, M. Elsabbagh, J. Flanagan, B. Fernandez, Melissa T. Carter, Peter Szatmari, Wendy Roberts, J. Lerch, Xudong Liu, R. Nicolson, S. Georgiades, Rosanna Weksberg, P. D. Arnold, Anne S. Bassett, Jennifer Crosbie, R. Schachar, D. Stavropoulos, E. Anagnostou, Stephen W. Scherer   +59 more
semanticscholar   +1 more source

Copy number variation of TdDof controls solid-stemmed architecture in wheat

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance Solid-stemmed wheat cultivars are resistant to the wheat stem sawfly, an important agricultural pest. Here, we identify TdDof as the causal gene that controls stem solidness in wheat.
K. Nilsen, S. Walkowiak, D. Xiang, Peng Gao, Teagen D. Quilichini, I. Willick, Brook Byrns, A. N’Diaye, J. Ens, Krystalee Wiebe, Y. Ruan, R. Cuthbert, M. Craze, E. Wallington, J. Simmonds, C. Uauy, R. Datla, C. Pozniak   +17 more
semanticscholar   +1 more source

Post‐selection inference for changepoint detection algorithms with application to copy number variation data [PDF]

Biometrics, 2018
Changepoint detection methods are used in many areas of science and engineering, for example, in the analysis of copy number variation data to detect abnormalities in copy numbers along the genome.
S. Hyun, Kevin Lin, M. G'Sell, R. Tibshirani   +3 more
semanticscholar   +1 more source

CoNVaQ: a web tool for copy number variation-based association studies

BMC Genomics, 2018
Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto, Jan Baumbach   +3 more
doaj   +1 more source

Copy number variation in plasma as a tool for lung cancer prediction using Extreme Gradient Boosting (XGBoost) classifier

Thoracic Cancer, 2019
The main cause of cancer death is lung cancer (LC) which usually presents at an advanced stage, but its early detection would increase the benefits of treatment.
Da-ping Yu, Zhidong Liu, C. Su, Yi Han, X. Duan, Rui Zhang, Xiaoshuang Liu, Yang Yang, Shaofa Xu   +8 more
semanticscholar   +1 more source

Copy Number Variations in Neuropsychiatric Disorders

International Journal of Molecular Sciences, 2023
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki, Kinga Hadzsiev, Judit Bene   +2 more
openaire   +2 more sources

Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia, 2019
Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies
A. Coppola, E. Cellini, Hannah Stamberger, Elmo Saarentaus, V. Cetica, Dennis Lal, T. Djémié, Magdalena Bartnik-Głaska, B. Ceulemans, J. Helen Cross, T. Deconinck, S. Masi, T. Dorn, R. Guerrini, D. Hoffman-Zacharska, F. Kooy, L. Lagae, N. Lench, J. Lemke, E. Lucenteforte, F. Madia, H. Mefford, D. Morrogh, P. Nuernberg, A. Palotie, A. Schoonjans, P. Striano, E. Szczepanik, A. Tostevin, J. Vermeesch, H. Van Esch, W. van Paesschen, J. Waters, S. Weckhuysen, F. Zara, P. Jonghe, S. Sisodiya, C. Marini, Anna‐Elina Dana Tiina Hande Jose Katalin Rikke S. Helle Holge Lehesjioki Craiu Talvik Caglayan Serratosa Sterbov, Anna‐Elina Lehesjioki, D. Craiu, T. Talvik, H. Caglayan, J. Serratosa, K. Štěrbová, R. Møller, H. Hjalgrim, H. Lerche, Y. Weber, I. Helbig, S. von Spiczak, Carmen Barba, A. Bogaerts, A. Boni, E. Galizia, S. Chiari, Gianpiero Di Gacomo, Annarita Ferrari, S. Guarducci, S. Giglio, Philip Holmgren, C. Leu, F. Melani, F. Novara, M. Pantaleo, Elke Peeters, T. Pisano, A. Rosati, J. Sander, N. Schoeler, P. Stankiewicz, S. Striano, A. Suls, M. Traverso, G. Vandeweyer, Anke Van Dijck, O. Zuffardi   +76 more
semanticscholar   +1 more source