المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, OHeir, Emily, Ganesh, Vijay, Wojcik, Monica, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha, Neil, Jennifer, Shao, Diane, Walsh, Christopher, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott, Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay, Madden, Jill, Genetti, Casie, Beggs, Alan, Agrawal, Pankaj, Bujakowska, Kinga, Place, Emily, Pierce, Eric, Donkervoort, Sandra, Bönnemann, Carsten, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan, Töpf, Ana, Straub, Volker, Fleming, Mark, Pollak, Martin, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel, MacArthur, Daniel, Rehm, Heidi, Talkowski, Michael, Brand, Harrison, ODonnell-Luria, Anne

المصدر: American Journal of Human Genetics. 111(5)

مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification, Humans, DNA Copy Number Variations, Rare Diseases, Exome, Male, Female, Exome Sequencing, Cohort Studies, Genetic Testing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3s20v4vs
https://escholarship.org/content/qt3s20v4vs/qt3s20v4vs.pdf

المؤلفون: Schleifer, Charles, OHora, Kathleen, Jalbrzikowski, Maria, Bondy, Elizabeth, Kushan-Wells, Leila, Lin, Amy, Uddin, Lucina, Bearden, Carrie

المصدر: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 9(2)

مصطلحات موضوعية: Autism, Copy number variant, Neurodevelopment, Psychosis, Thalamus, fMRI, Adolescent, Humans, Female, Adult, Child, Young Adult, Male, DiGeorge Syndrome, Cross-Sectional Studies, Schizophrenia, Psychotic Disorders, Cerebral Cortex

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/535135b1

المؤلفون: Haydee Artaza, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen C. Røyrvik, Marc Vaudel, Stefan Johansson

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Copy number variant (CNV), Calls detection, Quality control, Burden analysis, Enrichment analysis, Rare variants analysis, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/0a7ee445bc0e43619264c6afca754e97

المؤلفون: Raniah Saleem Alotibi, Mariam M. Al Eissa, Taghrid Aloraini, Khalidah Khalid Nasser, Muneera J. Al Shammari, Amerh S. Alqahtani

المصدر: Saudi Journal of Medicine and Medical Sciences, Vol 12, Iss 4, Pp 292-298 (2024)

مصطلحات موضوعية: array, copy number variant, exome sequencing, foxp1, variant of unknown significance, Medicine

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/sjmms.sjmms_155_24; https://doaj.org/toc/1658-631X

URL الوصول: https://doaj.org/article/9e8b5552cd8d40f7bd0fee3a6e5fa7db

المؤلفون: Modasi, Jasmine, Khachadourian, Vahe, OHora, Kathleen, Kushan, Leila, Slavich, George, Shields, Grant, Velthorst, Eva, Bearden, Carrie

المصدر: Psychological Medicine. 53(15)

مصطلحات موضوعية: 22q11.2, Acute stress, chronic stress, copy number variant, environmental risk factors, psychosis, Humans, Adolescent, Cross-Sectional Studies, DNA Copy Number Variations, Prospective Studies, Psychotic Disorders, DiGeorge Syndrome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5dh6x7qt
https://escholarship.org/content/qt5dh6x7qt/qt5dh6x7qt.pdf

المؤلفون: Michel-Edwar Mickael, Norwin Kubick, Atanas G. Atanasov, Petr Martinek, Jarosław Olav Horbańczuk, Nikko Floretes, Michael Michal, Tomas Vanecek, Justyna Paszkiewicz, Mariusz Sacharczuk, Piotr Religa

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 8, Pp 8301-8319 (2024)

مصطلحات موضوعية: copy number variant, Ai, CNV, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/8/490; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/e6185171faa7413aaa28f25c0fe5414d

المؤلفون: Zahra Rahaie, Hamid R. Rabiee, Hamid Alinejad-Rokny

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-25 (2024)

مصطلحات موضوعية: Copy number variant, Association, Deep learning, Proximal gradient descent, Group LASSO, Autism, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/277eae9c344b49e2b20a0136fae4e8a2

المؤلفون: Zhang Juan, Guo Cuixia, Cui Yuanjie, Liu Yan, Yao Ling, Zhang Tiejuan, Wang Li, Han Jijing, Zhang Guohui, Yan Yousheng, Wu Qingqing, Sun Lijuan

المصدر: European Journal of Medical Research, Vol 29, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Posterior fossa malformation, Karyotyping, Copy number variant, Whole-exome sequencing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-783X

URL الوصول: https://doaj.org/article/8d0dfe83529d4c639b874d322f1c2bb5

المؤلفون: Moreau, Clara, Kumar, Kuldeep, Harvey, Annabelle, Huguet, Guillaume, Urchs, Sebastian, Schultz, Laura, Sharmarke, Hanad, Jizi, Khadije, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Martineau, Jean-Louis, Orban, Pierre, Silva, Ana, Hall, Jeremy, van den Bree, Marianne, Owen, Michael, Linden, David, Lippé, Sarah, Almasy, Laura, Glahn, David, Thompson, Paul, Bourgeron, Thomas, Bellec, Pierre, Jacquemont, Sebastien, Bearden, Carrie

المصدر: Brain: a journal of neurology. 146(4)

مصطلحات موضوعية: autism spectrum disorder, copy-number variant, functional connectivity, pleiotropy, psychiatry, Humans, Genetic Pleiotropy, Magnetic Resonance Imaging, Mental Disorders, Brain, Connectome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5xj8m84w

المؤلفون: Xiaofang Xie, Xiaotong Xi, Dan Zhao, Yingyue Zhao, Tiantian Yi, Dongsheng Chen, Rui Liu, Lin Qi, Zhen Pan, Hongqiu Wang, Haifang Zhang, Ran Ding, Hong Du

المصدر: Heliyon, Vol 10, Iss 21, Pp e38826- (2024)

مصطلحات موضوعية: mNGS, Pathogens, Tumor, Copy number variant, mNGS-CNV dual-omics, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024148578; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/8f291c8ac9614e2fb87bd0bed74782ef

المؤلفون: ShuYuan Xue, YuTong Liu, LiXia Wang, Le Zhang, Bozhen Chang, GuiFeng Ding, PengGao Dai

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: karyotype, chromosomal microarray, prenatal diagnosis, ultrasonography, copy number variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1347942/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7fa98fe959b84698b5e5bbac6f440eab

المؤلفون: Kira Mascho, Svetlana A. Yatsenko, Cecilia W. Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R. Helvaty, Stephanie Burns Wechsler, Chaya N. Murali, Seema R. Lalani, Vidu Garg, Jennelle C. Hodge, Kim L. McBride, Stephanie M. Ware, Jiuann-Huey Ivy Lin

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: 5p deletion, congenital heart defect, genetic disorder, left ventricular outflow tract obstruction, copy number variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1451746/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2ea28b86dde34d79982956d3247450a9

المؤلفون: Moreau, Clara, Harvey, Annabelle, Kumar, Kuldeep, Huguet, Guillaume, Urchs, Sebastian, Douard, Elise, Schultz, Laura, Sharmarke, Hanad, Jizi, Khadije, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Rolland, Thomas, Martineau, Jean-Louis, Orban, Pierre, Silva, Ana, Hall, Jeremy, van den Bree, Marianne, Owen, Michael, Linden, David, Labbe, Aurelie, Lippé, Sarah, Almasy, Laura, Glahn, David, Thompson, Paul, Bourgeron, Thomas, Bellec, Pierre, Jacquemont, Sebastien, Bearden, Carrie

المصدر: Biological Psychiatry. 93(1)

مصطلحات موضوعية: Autism spectrum disorder, Copy number variant, Functional connectivity, Genetic heterogeneity, Polygenic score, Transdiagnostic approach, Humans, Genetic Heterogeneity, Genetic Predisposition to Disease, Multifactorial Inheritance, Brain, DNA Copy Number Variations, Psychiatry, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5z4668wf

المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6cv3233c
https://escholarship.org/content/qt6cv3233c/qt6cv3233c.pdf

المؤلفون: Zhao, Chunyu, Goldman, Miriam, Smith, Byron J, Pollard, Katherine S

المصدر: Current Protocols. 2(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Ecology, Genetics, Microbiology, Human Genome, Metagenome, Genotype, Alleles, Microbiota, Nucleotides, MIDAS2, copy number variant, genotyping, microbiome, single nucleotide variant, strain

URL الوصول: https://escholarship.org/uc/item/82q8b3h5

المؤلفون: Seung Hun Han, Sabrina Y. Camp, Hoyin Chu, Ryan Collins, Riaz Gillani, Jihye Park, Ziad Bakouny, Cora A. Ricker, Brendan Reardon, Nicholas Moore, Eric Kofman, Chris Labaki, David Braun, Toni K. Choueiri, Saud H. AlDubayan, Eliezer M. Van Allen

المصدر: European Urology Open Science, Vol 62, Iss , Pp 107-122 (2024)

مصطلحات موضوعية: Renal cell carcinoma, Population stratification, Germline pathogenic variants, Cryptic splice variant, Copy number variant, CHEK2-associated cancer risk, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666168324002635; https://doaj.org/toc/2666-1683

URL الوصول: https://doaj.org/article/bc02f6f33ac345cc8e0f2bf75dadce6f

المؤلفون: Bryson M. F. Sjodin, Danielle A. Schmidt, Kurt E. Galbreath, Michael A. Russello

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Copy number variant, Local adaptation, Climate, RADseq, Latitudinal and elevational gradients, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/b3c1050d34f143599ecdd348d6cfe651

المؤلفون: Mariona Bustamante, Laura Balagué-Dobón, Zsanett Buko, Amrit Kaur Sakhi, Maribel Casas, Lea Maitre, Sandra Andrusaityte, Regina Grazuleviciene, Kristine B. Gützkow, Anne-Lise Brantsæter, Barbara Heude, Claire Philippat, Leda Chatzi, Marina Vafeiadi, Tiffany C. Yang, John Wright, Amy Hough, Carlos Ruiz-Arenas, Ramil N. Nurtdinov, Geòrgia Escaramís, Juan R. González, Cathrine Thomsen, Martine Vrijheid

المصدر: Environment International, Vol 190, Iss , Pp 108845- (2024)

مصطلحات موضوعية: Phthalate, Genome-wide association study (GWAS), Genetic variant, Single nucleotide polymorphism (SNP), Copy number variant (CNV), Metabolism, Environmental sciences, GE1-350

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0160412024004318; https://doaj.org/toc/0160-4120

URL الوصول: https://doaj.org/article/2481c46b0f0a45f3bfb449d1864457fd

المؤلفون: Yundan Liao, Yutao Sun, Jing Guo, Zhewei Kang, Yaoyao Sun, Yuyanan Zhang, Jiong He, Chengchen Huang, Xin Sun, Jian-min Zhang, Jun Wang, Hua-ning Wang, Zhi-yu Chen, Kai Wang, Jiyang Pan, Ai-hua Ni, Saizheng Weng, Anzhen Wang, Changbin Cao, Lidong Sun, Yong Zhang, Li Kuang, Yunshu Zhang, Zhongchun Liu, Weihua Yue, Hanping Bai, Maolin Hu, Bing Li, Jingshan Han, Jiaojiao Xiang, Ruhong Jiang, Jian Zhang, Yuxiang He, Huailiang Yang, Guifang Liu, Lili Peng, Hui Yu, Xialong Cheng, Wenmei Fang, Rongyan Zheng, Ruiqian Lin, Xiao-yan Zhai, Rui Tang, Fangyi Deng, Chunyan Zhu, Ting Zhang, Yan Yang, Ji-ting Geng, Di Wu, Yi-huan Chen, Yifan Sun, Yong-can Zhou, Wei-xin Wang

المصدر: EBioMedicine, Vol 104, Iss , Pp 105165- (2024)

مصطلحات موضوعية: CYP2D6, Copy number variant, Metabolizer status, Paroxetine, Dose adjustment, Precision medicine, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424002007; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/46c5e2e3cf004413a0ecead42c24873f

المؤلفون: Benet-Pagès, Anna, Rosenbloom, Kate, Nassar, Luis, Lee, Christopher, Raney, Brian, Clawson, Hiram, Schmelter, Daniel, Casper, Jonathan, Gonzalez, Jairo, Perez, Gerardo, Lee, Brian, Zweig, Ann, Kent, W, Haeussler, Maximillian, Kuhn, Robert

المصدر: Human Mutation. 43(8)

مصطلحات موضوعية: CNV, SNV, clinical genetics, copy number variant, database, genome browser, recommended track set, single nucleotide variant, variant interpretation, DNA Copy Number Variations, Databases, Genetic, Genome, Human, Genomics, Humans, Internet, Software

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3jv124p3