A copy number variation map of the human genome
Zarrei, Mehdi, MacDonald, Jeffrey R., Merico, Daniele, Scherer, Stephen W.·2015·Nature Reviews Genetics
DOI 10.1038/nrg3871
Cited by (940)
Items 401–500 of 940
- Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative StressJiang, Wenxuan, Cheung, Rachel Yau Kar, Chung, Cheuk Yan, Chan, Symphorosa Shing Chee, Choy, Kwong Wai · 2024 · Genes
- dbCNV: deleteriousness-based model to predict pathogenicity of copy number variationsKangqi Lv, Dayang Chen, Dan Xiong, Huamei Tang, Tong Ou, Lijuan Kan, Xiuming Zhang · 2023 · BMC Genomics
- Integration of Federated Learning and Blockchain in Health Care: Tutorial on Medical Data, Architectures, Privacy, Security, and Regulatory ComplianceYahya Shahsavari, Yaser Baseri, Abdelhakim Senhaji Hafid, Oussama Abderrahmane Dambri, Dimitrios Makrakis · 2026 · Journal of Medical Internet Research
- Copy number variation and population-specific immune genes in the model vertebrate zebrafishYannick Schäfer, Katja Palitzsch, Maria Leptin, Andrew R. Whiteley, Thomas Wiehe, Jaanus Suurväli · 2024 · eLife
- Recent Insights Into the Evolutionary Genomics of the Critically Endangered Aye‐Aye ( Daubentonia madagascariensis )Vivak Soni, Susanne P. Pfeifer, Jeffrey D. Jensen · 2025 · American Journal of Primatology
- Sex Chromosomes Are Severely Disrupted in Gastric Cancer Cell LinesSooeun Oh, Kyoungmi Min, Myungshin Kim, Suk Kyeong Lee · 2020 · International Journal of Molecular Sciences
- DNA replication, transcription, and H3K56 acetylation regulate copy number and stability at tandem repeatsDevika Salim, William D. Bradford, BORIS Y. RUBINSTEIN, Jennifer L. Gerton · 2021 · G3 Genes Genomes Genetics
- Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium informationJia Ju, Jia Li, SiYang Maggie Liu, Haiqiang Zhang, Jinjin Xu, Yu Lin, Ya Ming Gao, Yulin Zhou, Xin Jin · 2021 · npj Genomic Medicine
- Intra-specific copy number variation of MHC class II genes in the Siamese fighting fishAnson Tsz Chun Wong, Derek Kong Lam, Emily Shui Kei Poon, David Tsz Chung Chan, Simon Yung Wa Sin · 2022 · Immunogenetics
- Multi-omics analysis to screen potential therapeutic biomarkers for anti-cancer compoundsRuxue Li, Wuai Zhou · 2022 · Heliyon
- Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associationsMaarja Lepamets, Chiara Auwerx, Margit Nõukas, Annique Claringbould, Eleonora Porcu, Mart Kals, Tuuli Jürgenson, Andrew P. Morris, Urmo Võsa, Murielle Bochud et al. · 2022 · Human Genetics and Genomics Advances
- Copy Number Variation and OsteoporosisNika Lovšin · 2023 · Current Osteoporosis Reports
- Noise cancellation using total variation for copy number variation detectionFatima Zare, Abdelrahman Hosny, Sheida Nabavi · 2018 · BMC Bioinformatics
- Detection of copy number variations in brown and white layers based on genotyping panels with different densitiesWioleta Drobik-Czwarno, Anna Wolc, Janet Elizabeth Fulton, Jack C. M. Dekkers · 2018 · Genetics Selection Evolution
- Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal healthTriin Kikas, Maris Laan, Laura Kasak · 2021 · Placenta
- Copy number variation in the CES1 gene and the risk of non-alcoholic fatty liver in a Chinese Han populationBing bing Chen, Jian hui Yan, Jing Zheng, Peng He, Xiao Cai, Xin ting Pan, Hui Quan Li, Qi Hong, Xian‐E Peng · 2021 · Scientific Reports
- Copy number variation of bovine DYNC1I2 gene is associated with body conformation traits in chinese beef cattleXinmiao Li, Xiaoting Ding, Lingling Liu, Peng Yang, Zhi Yao, Chuzhao Lei, Hong Chen, Yongzhen Huang, Wujun Liu · 2021 · Gene
- Integration of DNA Microarray with Clinical and Genomic DataFrancesca Scionti, Mariamena Arbitrio, Daniele Caracciolo, Licia Pensabene, Pierfrancesco Tassone, Pierosandro Tagliaferri, Maria Teresa Di Martino · 2021 · Methods in molecular biology
- Copy Number Variation Analysis of Euploid Pregnancy LossChongjuan Gu, Huan Gao, Kuanrong Li, Xinyu Dai, Zhao Yang, Ru Li, Canliang Wen, Yaojuan He · 2022 · Frontiers in Genetics
- Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with HypospadiasCarter Scott, Ina E. Amarillo · 2022 · International Journal of Molecular Sciences
- Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary HospitalsYu Zheng, Baosheng Zhu, Jichun Tan, Yichun Guan, Cynthia Casson Morton, Guangxiu Lu · 2022 · Diagnostics
- Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogsMatteo Bianchi, Nima Rafati, Åsa Karlsson, Eva Murén, Carl‐Johan Rubin, Katarina Sundberg, Göran Andersson, Olle Kämpe, Åke A. Hedhammar, Kerstin Lindblad‐Toh et al. · 2020 · BMC Genomics
- Integrative Analysis of Methylation and Copy Number Variations of Prostate Adenocarcinoma Based on Weighted Gene Co-expression Network AnalysisYaxin Hou, Junyi Hu, Lijie Zhou, Lilong Liu, Ke Chen, Xiong Wen Yang · 2021 · Frontiers in Oncology
- Correction: CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disordersAditya Addepalli, Sakhare Kalyani, Minali Singh, Debashree Bandyopadhyay, Kommu Naga Mohan · 2020 · PLoS ONE
- The predictive value of noninvasive prenatal screening for copy number variations: a cohort study and a systematic meta-analysisLi Wen, Yanzhen Zhang, Jiye Gao, Wensheng Hu · 2023 · Expert Review of Molecular Diagnostics
- Detection of germline CNVs from gene panel data: benchmarking the state of the artElisabet Munté, Carla Roca, Jesús Del Valle, Lídia Feliubadaló, Marta Pineda, Bernat Gel, Elisabeth Castellanos, Bárbara Rivera, David Cordero, Victor Rau Moreno et al. · 2024 · Briefings in Bioinformatics
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysisQian Sun, Peiwen Xu, Aiping Mao, Sexin Huang, Jie Li, Libao Chen, Jing Li, Haopeng Kan, Ju Huang, Wenkai Ji et al. · 2025 · npj Genomic Medicine
- A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with HaemoglobinopathiesAnna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, Marina Kleanthous, Petros Kountouris · 2022 · International Journal of Molecular Sciences
- A comprehensive analysis of copy number variations in diverse apple populationsJinsheng Xu, Weihan Zhang, Ping Zhang, Weicheng Sun, Yuepeng Han, Li Li · 2023 · BMC Genomics
- Mycoplasma DnaK increases DNA copy number variants in vivoFrancesca Benedetti, Giovannino Silvestri, Saman Saadat, Frank Denaro, Olga Latinovic, Harry Davis, Sumiko Williams, Joseph Bryant, Rudy Ippodrino, Chozha Vendan Rathinam et al. · 2023 · Proceedings of the National Academy of Sciences
- Dietary nutrients that potentially mitigate autism spectrum disorder and dietary recommendations for children and pregnant womenWentian Li, Qingmin Kong, Peijun Tian, Linlin Wang, Xing Yu Jin, Jianxin Zhao, Heng Zhang, Wei Chen, Gang Wang · 2024 · Food Frontiers
- Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging ApproachesMohammed M. Alfayyadh, Neven Maksemous, Heidi G. E. Sutherland, Rod A. Lea, Lyn Robyn Griffiths · 2024 · Genes
- Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicismJuliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Ganoa de Oliveira Gennaro, Filipe Brum Machado, Enrique Medina‐Acosta, Ester Silveira Ramos, Maisa Yoshimoto, Lúcia Regina Martelli · 2016 · Molecular Cytogenetics
- An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepthAndrew Parrish, Richard C. Caswell, Garan Jones, Christopher Mark Watson, Laura A. Crinnion, Sian Ellard · 2017 · Wellcome Open Research
- Preprocessing Sequence Coverage Data for More Precise Detection of Copy Number VariationsFatima Zare, Sardar Ansari, Kayvan Najarian, Sheida Nabavi · 2018 · IEEE Transactions on Computational Biology and Bioinformatics
- Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez‐Palma, Elmo Saarentaus, Joris Andrieux, Marie Ravoet, Giancarlo V De Ferrari, Peter Nuernberg, Bertrand Isidor, Bernd Axel Neubauer, Dennis Lal · 2018 · Neurology Genetics
- Applications of molecular networks in biomedicineMónica Chagoyen, Juan A. G. Ranea, Florencio Pazos · 2019 · Biology Methods and Protocols
- Preparation and characterization of DNA array slides via surface Michael additionFang Cheng, Xiaochun Ma, Qiancheng Feng, Hanqi Wang, Meng Yin, Wei Jian He · 2019 · Biointerphases
- Savanna Monkeys: The Genus ChlorocebusTrudy R. Turner, Christopher A. Schmitt, Jennifer Danzy Cramer · 2019
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North AfricaLilia Romdhane, Nessrine Mezzi, Hamza Dallali, Olfa Messaoud, Jingxuan Shan, Khalid Adnan Fakhro, Rym Kéfi, Lotfi Chouchane, Sonia Abdelhak · 2021 · npj Genomic Medicine
- CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancerAmrita Sengupta Chattopadhyay, Zi Han Teoh, Chi-Yun Wu, Jyh‐Ming Jimmy Juang, Liang‐Chuan Lai, Mong‐Hsun Tsai, Chia-Hsin Wu, Tzu‐Pin Lu, Eric Yao-Yu Chuang · 2021 · Database
- Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in TaiwanChung‐Lin Lee, Chih‐Kuang Chuang, Ru‐Yi Tu, Huei‐Ching Chiu, Yun‐Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih‐Ping Chen et al. · 2021 · Medicina
- Lethal variants of equine pregnancy: is it the placenta or foetus leading the conceptus in the wrong direction?Charlotte A. Shilton, Anne Kahler, Jessica M. Roach, Terje Raudsepp, Amanda M. de Mestre · 2022 · Reproduction Fertility and Development
- Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal MosaicismLaura Batlle-Masó, Jacques Gabriel Riviere, Clara Franco‐Jarava, Andrea Martín‐Nalda, Marina García-Prat, Alba Parra-Martínez, Aina Aguiló‐Cucurull, Neus Castells, Mónica Martínez‐Gallo, Pere Soler‐Palacín et al. · 2023 · Journal of Clinical Immunology
- Genomic Copy Number Variations in the Genomes of Leukocytes Predict Prostate Cancer Clinical OutcomesYan Ping Yu, Silvia Liu, Zhiguang Huo, Amantha Martin, Joel B. Nelson, George C. Tseng, Jianhua Luo · 2015 · PLoS ONE
- Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant MarkersSeung‐Hyun Jung, Sung-Min Cho, Seon‐Hee Yim, Sohee Kim, Hyeon‐Chun Park, Mi‐La Cho, Seung Cheol Shim, Tae‐Hwan Kim, Sung‐Hwan Park, Yeun‐Jun Chung · 2016 · The Journal of Rheumatology
- Using XCAVATOR and EXCAVATOR2 to Identify CNVs from WGS, WES, and TS DataRomina D’Aurizio, Roberto Semeraro, Alberto Magi · 2018 · Current Protocols in Human Genetics
- Big data in der Diagnostik genetischer SchwerhörigkeitBarbara Vona, Marcus Christian Müller, S Dofek, Martin Holderried, Hubert Löwenheim, Anke S. Tropitzsch · 2019 · Laryngo-Rhino-Otologie
- Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance EstimatesMarcus A. Tuke, Jessica Tyrrell, Katherine S. Ruth, Robin N. Beaumont, Andrew R. Wood, Anna Murray, Timothy M. Frayling, Michael N. Weedon, Caroline Fiona Wright · 2020 · The American Journal of Human Genetics
- reconCNV: interactive visualization of copy number data from high-throughput sequencingRaghu Chandramohan, Nipun Kakkar, Angshumoy Roy, Donald Williams Parsons · 2020 · Bioinformatics
- Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in KoreansNayoung Han, Jung Mi Oh, In‐Wha Kim · 2021 · Journal of Personalized Medicine
- Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemiaYücel Erbilgin, Özden Hatırnaz Ng, Ismail Can, Sinem Fırtına, Fulya KÜÇÜKCANKURT, Serap Karaman, Zeynep Karakaş, Tiraje Tülin Celkan, Emine Zengin, Sema Aylan Gelen et al. · 2021 · International Journal of Laboratory Hematology
- Chromosome Instability SyndromesR. J McKinlay Gardner, David J. Amor · 2018 · Oxford University Press eBooks
- Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related LociSTRÁNECKÝ, V., NEŘOLDOVÁ, M., HODAŇOVÁ, K., HARTMANNOVÁ, H., PIHEROVÁ, L., ZEMÁNKOVÁ, P., PŘISTOUPILOVÁ, A., VRABLÍK, M., ADÁMKOVÁ, M., KMOCH, S. et al. · 2016 · Physiological Research
- Genomic analysis defines distinct pancreatic and neuronal subtypes of lung carcinoidClara Domingo‐Sabugo, Saffron A.G. Willis‐Owen, Amit Mandal, Anca Năstase, Sarah Dwyer, Cecilia Brambilla, José Héctor Gálvez, Qinwei Kim-Wee Zhuang, Sanjay Popat, Robert J. M. Eveleigh et al. · 2024 · The Journal of Pathology
- Distribution of copy number alterations and impact of chromosome arm call thresholds for meningiomaRuchit V. Patel, Hia S. Ghosh, David M. Meredith, Scott T. Ryall, Elizabeth B. Claus, Rameen Beroukhim, Azra Hadi Ligon, Sandro Santagata, Wenya Linda Bi · 2025 · Nature Communications
- How Structural Variations Influence Crop ImprovementXiaomei Wang, Changyuan Liu, Xiaohuan Sun, Guohong Sun, Chunmei Zong, Yuxin Qi, Yanfeng Bai, Wen Li, Fanjiang Kong, Haiyang Li et al. · 2025 · International Journal of Molecular Sciences
- A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsyAzeem Siddique, Josh Willoughby, DDD Study, Alisdair McNeill · 2017 · American Journal of Medical Genetics Part A
- Perspective: DNA Copy Number Variations in Cardiovascular DiseasesAatira Vijay, Iti Garg, Mohammad Zahid Ashraf · 2018 · Epigenetics Insights
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E. Bonini, Amanda Thomas‐Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase, Nicole R. Kelly, Michelle A. Ramos, Beverly J. Insel, Laura Scarimbolo et al. · 2023 · Clinical Genetics
- Expression heterogeneity, tumor immune characteristics and the prognosis effects of OPRL1 in patients with tumors: a pan-cancer study combined with bioinformation analyses and in vitro validationXiaoqiang Wang, Yiying Tao, Chaojin Zhang, Jie Tian, Weifeng Yu · 2024 · Anesthesiology and Perioperative Science
- Modelling DNA damage-repair and beyondHooshang Nikjoo, Shirin Rahmanian, Reza Taleei · 2024 · Progress in Biophysics and Molecular Biology
- Copy number amplification-induced overexpression of lncRNA LOC101927668 facilitates colorectal cancer progression by recruiting hnRNPD to disrupt RBM47/p53/p21 signalingZaozao Wang, Haibo Han, Chenghai Zhang, Chenxin Wu, Jiabo Di, Pu Xing, Xiaowen Qiao, Kai Weng, Hao Hao, Xinying Yang et al. · 2024 · Journal of Experimental & Clinical Cancer Research
- Drosophila Larval Brain Neoplasms Present Tumour-Type Dependent Genome InstabilityFabrizio Rossi, Camille Stephan‐Otto Attolini, José Luis Mosquera, Cayetano González · 2018 · G3 Genes Genomes Genetics
- Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart SyndromeAndrew Dailey Schwartz, Hanna John J Tadros, Mahshid Sababi Azamian, Seema R. Lalani, Shaine Alaine Morris, Hugh D. Allen, Jeffrey J. Kim, Andrew Paul Landstrom · 2018 · The Journal of Pediatrics
- Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted TherapyJennifer R. Heimall · 2018 · Immunology and Allergy Clinics of North America
- Copy Number Variation in MUC5AC and Susceptibility to Allergic Rhinitis: A Low-Coverage Whole-Genome Sequencing and Validation Cohort StudyYan Wang, Linge Li, Yuping Yang, Juan Feng, Lingling Wang, Hua Zhang · 2020 · Genetic Testing and Molecular Biomarkers
- Identification of Copy Number Variations in Four Horse Breed Populations in South KoreaYong‐Min Kim, Seok-Joo Ha, Ha-Seung Seong, Jaeyoung Choi, Hee-Jung Baek, Byoung-Chul Yang, Jung-Woo Choi, Nam-Young Kim · 2022 · Animals
- Copy Number Variation Analysis Revealed the Evolutionary Difference between Chinese Indigenous Pigs and Asian Wild BoarsShuhao Fan, Chengcheng Kong, Yige Chen, Xianrui Zheng, Ren Zhou, Xiaodong Zhang, Xudong Wu, Wei Zhang, Yueyun Ding, Zongjun Yin · 2023 · Genes
- Massive Amplification at an Unselected Locus Accompanies Complex Chromosomal Rearrangements in YeastAgnès Thierry, Varun Khanna, Bernard Dujon · 2016 · G3 Genes Genomes Genetics
- ERDS-Exome: A Hybrid Approach for Copy Number Variant Detection from Whole-Exome Sequencing DataRenjie Tan, Jixuan Wang, Xiaoliang Wu, Liran Juan, Tianjiao Zhang, Rui Ma, Qing Zhan, Tao Wang, Shuilin Jin, Qinghua Jiang et al. · 2017 · IEEE Transactions on Computational Biology and Bioinformatics
- A deep learning based scoring system for prioritizing susceptibility variants for mental disordersAtlas Khan, Kai Wang · 2017 · IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
- Identification of Prognostic Signature Based on the Copy Number Variation (CNV) and Expression in Acute Myeloid LeukemiaChangchun Niu, Di Wu, Alexander J. Li, Kevin H. Qin, Daniel A. Hu, Eric J. Wang, Andrew Blake Tucker, Fang He, Linjuan Huang, Hao Wang et al. · 2020 · Research Square
- High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiensXin‐Sheng Hu, Francis C. Yeh, Yang Hu, Li-Ting Deng, Richard A. Ennos, Xiaoyang Chen · 2017 · Scientific Reports
- Chromosomal numerical aberrations and rare copy number variation in patients with inflammatory Bowel diseaseDirvanskyte, Paulina, Gurram, Bhaskar, Bolton, Chrissy, Warner, Neil, Jones, Kelsey D J, Griffin, Helen R, Genomics England Research Consortium, Park, Jason Y, Keller, Klaus-Michael, Gilmour, Kimberly C et al. · 2023 · Journal of Crohn s and Colitis
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populationsZuzana Holesova, Ondrej Pös, Juraj Gazdarica, Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes · 2024 · BMC Genomics
- Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital AnomaliesMohamed A. M. Ali, Abdelrahman M. Hassan, Mosaab A. Saafan, Adel A. Abdelmagid · 2019 · Biochemical Genetics
- Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based ApproachChul Jun Goh, Hyuk‐Jung Kwon, Yoonhee Kim, Seunghee Jung, Jiwoo Park, Isaac Kise Lee, Bo-Ram Park, Myeong-Ji Kim, Minjeong Kim, Min-Seob Lee · 2023 · Diagnostics
- 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 spruceTin Hang Hung, Ernest Wu, Pauls Zeltiņš, Āris Jansons, Aziz Ullah, Nadir Erbilgin, Jöerg Bohlmann, Jean Bousquet, İnanç Birol, Sonya M. Clegg et al. · 2024 · BMC Genomics
- Screening of necroptosis-related genes and evaluating the prognostic capacity, clinical value, and the effect of their copy number variations in acute myeloid leukemiaDake Wen, Ru Yan, Lin Zhang, Haoyang Zhang, Xuyang Chen, Jian Ray Zhou · 2025 · BMC Cancer
- Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palateJohanna Klamt, Andrea Hofmann, Anne C. Böhmer, Ann‐Kathrin Hoebel, Lina Gölz, Jessica Becker, Alexander M. Zink, Markus Draaken, Alexander Hemprich, Martin Scheer et al. · 2016 · Birth Defects Research Part A Clinical and Molecular Teratology
- Neurogenetics in the Genome EraKelly McMahon, Alex R. Paciorkowski, Lauren Walters‐Sen, Jeff M. Milunsky, Alexander G. Bassuk, Benjamin W. Darbro, Jullianne Diaz, William B. Dobyns, Andrea Lynne Gropman · 2017 · Elsevier eBooks
- Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profilesMaría González-Tablas, Inês Crespo, Ana Luísa Vital, Álvaro Otero, Ana Belén Nieto Librero, Pablo Sousa, María Carmen Patino-Alonso, Luis Antonio Corchete, Hermínio Tão, Olinda Rebelo et al. · 2018 · Oncotarget
- Regulatory issues for genetically modified animalsPerry B. Hackett · 2020 · Frontiers of Agricultural Science and Engineering
- The haplolethality paradox of the wupA gene in DrosophilaSergio Casas‐Tintó, Alberto Ferrús · 2021 · PLoS Genetics
- Screening for Copy Number Variations of the 15q13.3 Hotspot in CHRNA7 Gene and Expression in Patients with MigrainesMehmet Fatih Özaltun, Sırma Geyik, Şenay Görücü Yılmaz · 2021 · Current Issues in Molecular Biology
- Many hands make light work: CNV of GSTM1 effect on the oral carcinoma riskIsabela Firigato, Rossana Veronica Mendoza López, Otávio Alberto Curioni, Juliana De Antonio, Gilka Jorge Fígaro Gattás, Fernanda de Toledo Gonçalves · 2022 · Cancer Epidemiology
- CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disordersAditya Addepalli, Sakhare Kalyani, Minali Singh, Debashree Bandyopadhyay, Kommu Naga Mohan · 2020 · PLoS ONE
- Identification of pyroptosis-related subtypes, development of a prognostic model, and characterization of tumour microenvironment infiltration in gastric cancerFeng Cao, Jingtao Hu, Hongtao Yuan, Pengwei Cao, Yunsheng Cheng, Yong Wang · 2022 · Frontiers in Genetics
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate GenesGiovanna Civitate Bastos, G. Tolezano, A. Krepischi · 2022 · Genes
- Frequent copy number variants in a cohort of Mexican-Mestizo individualsSílvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos-Ríos, Angélica Graciela Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayén-Molina, Camilo E. Villarroel et al. · 2023 · Molecular Cytogenetics
- Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient PrognosisSeong Eun Bak, Hanwool Kim, Sung Min Yoon, Eun‐Hae Cho, Junnam Lee, Sung Min Youn, Seong-Woo Park, Mi-Ryung Han, Soo Young Hur, Sung Jong Lee et al. · 2023 · Cancers
- Upregulation of TUBG1 expression promotes hepatocellular carcinoma developmentZijian Wang, Zhi-zheng Dai, Mei-zhen Hu, Junnan Liu, Hang Liang, Mei‐Mei Shen, Shujuan Zhu, Huajun Sheng, Jian Gao, Ailong Huang et al. · 2023 · Medical Oncology
- Identification of copy number variants contributing to hallux valgusWentao Zhou, Jun Hua Jia, Hui‐Qi Qu, Feier Ma, Junyi Li, Xiaohui Qi, Xinyi Meng, Zhiyong Ding, Gang Zheng, Hakon H. Hakonarson et al. · 2023 · Frontiers in Genetics
- Copy Number Variations Detection: Unravelling the Problem in Tangible AspectsFrancisco Ferreira Do Nascimento, Katia S. Guimarães · 2016 · IEEE Transactions on Computational Biology and Bioinformatics
- Making a heart: advances in understanding the mechanisms of cardiac developmentEllen Dees, H. Scott Baldwin · 2016 · Current Opinion in Pediatrics
- Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantationJohn B. Whitlam, Ling Ling, Michael I. Swain, Tom Harrington, Oksana Mirochnik, Ian Brooks, Sara Cronin, Jackie Challis, Vida Petrovic, Damien L. Bruno et al. · 2017 · Experimental Hematology
- Copy number variants in lipid metabolism genes are associated with gallstones disease in menEduardo Pérez‐Palma, Bernabé I. Bustos, Dennis Lal, Stephan Buch, Lorena Azócar, Mohammad Reza Toliat, Wolfgang Lieb, André Franke, Sebastian Hinz, Greta Burmeister et al. · 2019 · European Journal of Human Genetics
- MetaCNV - a consensus approach to infer accurate copy numbers from low coverage dataStefanie Friedrich, Remus Barbulescu, Thomas Helleday, Erik L. L. Sonnhammer · 2020 · BMC Medical Genomics
- Molecular mechanism linking a novel PCSK9 copy number variant to severe hypercholesterolemiaPaulina Lau, Sébastien Soubeyrand, Robert Alexander Hegele, Thomas A. Lagace, Ruth McPherson · 2020 · Atherosclerosis