Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Individual Comparisons by Ranking Methods

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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Finding the missing heritability of complex diseases

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Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities

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Global variation in copy number in the human genome

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Strong association of de novo copy number mutations with autism

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The Wellcome Trust Case Control Consortium, U.K.

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Evidence-based health policy—lessons from the Global Burden of Disease Study

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Origins and functional impact of copy number variation in the human genome

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Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?

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Genome integrity as a potential index of longevity in Ashkenazi Centenarian’s families

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Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

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Experimental Designs for Robust Detection of Effects in Genome-Wide Case–Control Studies

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A comparison of DMET Plus microarray and genome-wide technologies by assessing population substructure

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Human Genomics in Cardiovascular Medicine

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Somatic genome variations in vascular tissues and peripheral blood leukocytes in patients with atherosclerosis

Sleptcov, A. A., Nazarenko, M. S., Лебедев, И. Н., Skryabin, N. A., Frolov, A. V., Va, P., Барбараш, О. Л., Barbarash, L. S., & Puzyrev, V. P. (2014) · Russian Journal of Genetics · doi:10.1134/s1022795414080080 · Cited by 9

A model of binding on DNA microarrays: understanding the combined effect of probe synthesis failure, cross-hybridization, DNA fragmentation and other experimental details of affymetrix arrays

Jakubek, Y., & Cutler, D. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-737 · Cited by 14

Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans

Blackburn, A. N., Göring, H. H. H., Dean, A. K., Carless, M. A., Dyer, T. D., Kumar, S., Fowler, S. P., Curran, J. E., Almasy, L. A., Mahaney, M. C., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.188 · Cited by 9

Outfoxed by RBFOX1‐A caution about ascertainment bias

Kamien, B., Lionel, A. C., Bain, N. L., Scherer, S. W., & Hunter, M. F. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36458 · Cited by 9

KGVDB: a population-based genomic map of CNVs tagged by SNPs in Koreans

Moon, S., Jung, K. S., Kim, Y. J., Hwang, M. Y., Han, K., Lee, J., Park, K., & Kim, B.-J. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt173 · Cited by 9

Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population

Chung, R.-H., Chiu, Y.-F., Hung, Y.-J., Lee, W., Wu, K., Chen, H.-L., Lin, M., Chen, Y. I., Quertermous, T., & Hsiung, C. A. (2017) · BMC Genomics · doi:10.1186/s12864-017-3975-0 · Cited by 9

Copy number variation related disease genes

Aouiche, C., Shang, X., & Chen, B. (2018) · Quantitative Biology · doi:10.1007/s40484-018-0137-6 · Cited by 9

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

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Heterozygous deletion at the RLN1 locus in a family with testicular germ cell cancer identified by integrating copy number variation data with phenome and interactome information

Edsgärd, D., Scheel, M. M., Hansen, N. T., Ralfkiær, U., Jensen, T. S., Skakkebæk, N. E., Brunak, S., Gupta, R., Meyts, E. R., & Ottesen, A. M. (2011) · International Journal of Andrology · doi:10.1111/j.1365-2605.2011.01188.x · Cited by 9

Neurogenic Hypertension: Revelations from Genome-Wide Gene Expression Profiling

Marques, F. Z., & Morris, B. J. (2012) · Current Hypertension Reports · doi:10.1007/s11906-012-0282-7 · Cited by 9

Molecular Approaches, Models, and Techniques in Pharmacogenomic Research and Development

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Sparse probit linear mixed model

Mandt, S., Wenzel, F., Nakajima, S., Cunningham, J. P., Lippert, C., & Kloft, M. (2017) · Machine Learning · doi:10.1007/s10994-017-5652-6 · Cited by 9

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

Uebe, S., Ehrlicher, M., Ekici, A. B., Behrens, F., Böhm, B. B., Homuth, G., Schurmann, C., Völker, U., Jünger, M., Nauck, M. A., et al. (2017) · BMC Medical Genetics · doi:10.1186/s12881-017-0447-y · Cited by 9

Complex Haplotypes of GSTM1 Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations

Saitou, M., Satta, Y., & Gökçümen, Ö. (2018) · G3 Genes Genomes Genetics · doi:10.1534/g3.118.200462 · Cited by 9

Forest Tree Genomics: Review of Progress

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A computational method for detecting copy number variations using scale-space filtering

Lee, J., Lee, U., Kim, B., & Yoon, J. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-57 · Cited by 8

The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges

Hoh, B., & Yusoff, K. (2013) · Molecular Cytogenetics · doi:10.1186/1755-8166-6-8 · Cited by 8

Accurate Single-Nucleotide Polymorphism Allele Assignment in Trisomic or Duplicated Regions by Using a Single Base–Extension Assay with MALDI-TOF Mass Spectrometry

Trewick, A. L., Moustafa, J. S. E.-S., de Smith, A. J., Froguel, P., Greve, G., Njølstad, P. R., Coin, L., & Blakemore, A. I. F. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.159558 · Cited by 8

A Genome-Wide Association Study to Identify Potential Germline Copy Number Variants for Sporadic Breast Cancer Susceptibility

Sapkota, Y., Narasimhan, A., Kumaran, M., Sehrawat, B. S., & Damaraju, S. (2016) · Cytogenetic and Genome Research · doi:10.1159/000448558 · Cited by 8

Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects

Gao, Y., Wang, J., Shangguan, S., Bao, Y., Lu, X., Zou, J., Dai, Y., Liu, J., & Zhang, T. (2017) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-017-0506-0 · Cited by 8

Genetic predictors of gene expression associated with psychiatric comorbidity in patients with inflammatory bowel disease – A pilot study

Bruinooge, A., Liu, Q., Tian, Y., Jiang, W., Li, Y., Xu, W., Bernstein, C. N., & Hu, P. (2021) · Genomics · doi:10.1016/j.ygeno.2021.02.001 · Cited by 7

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Mitrovič, M., Patsopoulos, N. A., Beecham, A. H., Dankowski, T., Goris, A., Dubois, B., D'hooghe, M. B., Lemmens, R., Damme, P. V., Søndergaard, H. B., et al. (2019) · Cell · doi:10.1016/j.cell.2019.06.016 · Cited by 8

Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer

Masson, A. L., Talseth‐Palmer, B. A., Evans, T., Grice, D. M., Duesing, K., Hannan, G. N., & Scott, R. J. (2013) · Genes · doi:10.3390/genes4040536 · Cited by 8

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data

Foong, J., Gîrdea, M., Stavropoulos, J., & Brudno, M. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139656 · Cited by 8

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates

Tuke, M. A., Tyrrell, J., Ruth, K. S., Beaumont, R. N., Wood, A. R., Murray, A., Frayling, T. M., Weedon, M. N., & Wright, C. F. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.001 · Cited by 8

Family-Based Benchmarking of Copy Number Variation Detection Software

Nutsua, M., Fischer, A., Nebel, A., Hofmann, S., Schreiber, S., Krawczak, M., & Nothnagel, M. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133465 · Cited by 10

Rheumatoid Arthritis: Genetics

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A Genome-Wide Association Study of Educational AttainmentPreprint

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Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants

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CONDEX: Copy number detection in exome sequences

Ramachandran, A., Micsinai, M., & Pe’er, I. (2011) · IEEE International Conference on Bioinformatics and Biomedicine Workshops (BIBMW) · doi:10.1109/bibmw.2011.6112359 · Cited by 7

Investigating immunoregulatory effects of myeloid cell autophagy in acute and chronic inflammation

Hasnat, M. A., Cheang, I., Dankers, W., Lee, J. P. W., Truong, L. M., Pervin, M., Jones, S. A., Morand, E. F., Ooi, J. D., & Harris, J. (2022) · Immunology and Cell Biology · doi:10.1111/imcb.12562 · Cited by 7

A review in two classes of hypoglycemic compounds (prebiotics and flavonoids) intervening in type 2 diabetes mellitus: Unveiling their structural characteristics and gut microbiome as key mediator

Li, Z., Zhang, T., Liu, Y., Huang, Y., Liu, J., Wang, S., Sun, P., Nie, Y., Han, Y., Li, F., et al. (2024) · Food Bioscience · doi:10.1016/j.fbio.2024.105010 · Cited by 7

Determining Genetic Risk Factors for Pediatric Type 2 Diabetes

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Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array

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Effect of MPG Gene rs2858056 Polymorphism, Copy Number Variation, and Level of Serum MPG Protein on the Risk for Rheumatoid Arthritis

Huang, C., Chen, S., Huang, P.-H., & Tsai, F. (2015) · PLoS ONE · doi:10.1371/journal.pone.0120699 · Cited by 8

Dense mapping of IL18 shows no association in SLE

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Copy Number Variation in MUC5AC and Susceptibility to Allergic Rhinitis: A Low-Coverage Whole-Genome Sequencing and Validation Cohort Study

Wang, Y., Li, L., Yang, Y., Feng, J., Wang, L., & Zhang, H. (2020) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2019.0166 · Cited by 7

A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

Nishiyama, T., Takahashi, K., Tango, T., Pinto, D., Scherer, S. W., Takami, S., & Kishino, H. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-205 · Cited by 7

Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus

Black, H. A., Khan, F. F., Tyson, J., & Armour, J. A. L. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-614 · Cited by 7

A Method to Assess Linkage Disequilibrium between CNVs and SNPs Inside Copy Number Variable Regions

Wineinger, N. E., Pajewski, N. M., & Tiwari, H. K. (2011) · Frontiers in Genetics · doi:10.3389/fgene.2011.00017 · Cited by 8

Copy number variations play important roles in heredity of common diseases: a novel method to calculate heritability of a polymorphism

Nagao, Y. (2015) · Scientific Reports · doi:10.1038/srep17156 · Cited by 7

Higher schizotypy predicts better metabolic profile in unaffected siblings of patients with schizophrenia

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Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression

Ashouri, S., Wong, J. H., Nakagawa, H., Shimada, M., Tokunaga, K., & Fujimoto, A. (2021) · Human Genetics · doi:10.1007/s00439-021-02291-2 · Cited by 5

A Unified Framework Integrating Parent-of-Origin Effects for Association Study

Xiao, F., Ma, J., & Amos, C. I. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072208 · Cited by 7

Prioritization of genomic locus pairs for testing epistasis

Ayati, M., & Koyutürk, M. (2014) · ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics (ACM-BCB) · doi:10.1145/2649387.2649449 · Cited by 6

Cord Colitis Syndrome in Cord-Blood Stem-Cell Transplantation

van Bekkum, D., Vossen, J. M. J. J., & ZURCHER, C. (2011) · New England Journal of Medicine · doi:10.1056/nejmc1111264 · Cited by 7

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies

Nardone, G. G., Andrioletti, V., Santin, A., Morgan, A., Spedicati, B., Concas, M. P., Gasparini, P., Girotto, G., & Limongelli, I. (2025) · Biomedicines · doi:10.3390/biomedicines13081949 · Cited by 7

The Sonoda–Tajima Cell Collection: A Human Genetics Research Resource with Emphasis on South American Indigenous Populations

Danjoh, I., Saijo, K., Hiroyama, T., & Nakamura, Y. (2011) · Genome Biology and Evolution · doi:10.1093/gbe/evr014 · Cited by 6

Joint Genotype Calling With Array and Sequence Data

O’Connell, J., & Marchini, J. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21657 · Cited by 6

Tracking Cancer Genetic Evolution using OncoTrack

Talukder, A. K., Agarwal, M., Buetow, K. H., & Denèfle, P. (2016) · Scientific Reports · doi:10.1038/srep29647 · Cited by 6

dpGMM: A Dirichlet Process Gaussian Mixture Model for Copy Number Variation Detection in Low-Coverage Whole-Genome Sequencing Data

Li, Y., Zhang, J., Yuan, X., & Li, J. (2020) · IEEE Access · doi:10.1109/access.2020.2971863 · Cited by 6

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

Sánchez, S., Juárez, U., Domínguez, J., Molina, B., Barrientos-Ríos, R., Martínez-Hernández, A. G., Carnevale, A., Grether-González, P., Mayén-Molina, D. G., Villarroel, C. E., et al. (2023) · Molecular Cytogenetics · doi:10.1186/s13039-022-00631-z · Cited by 6

Genome-wide Association: From Confounded to Confident

Glessner, J., & Hakonarson, H. H. (2011) · The Neuroscientist · doi:10.1177/1073858410381533 · Cited by 6

Rare structural genetic variation in human prion diseases

Lukić, A., Uphill, J. B., Brown, C. A., Beck, J., Poulter, M., Campbell, T., Adamson, G., Hummerich, H., Whitfield, J. T., Ponto, C., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.01.011 · Cited by 7

Lack of replication of interactions between polymorphisms in rheumatoid arthritis susceptibility: case–control study

Ferreiro-Iglesias, A., Calaza, M., Pérez-Pampín, E. M., Longo, F. J. L., Marenco, J. L., Blanco, F. J., Narváez, J., Navarro, F., Cañete, J. D. D., de la Serna, A. R., et al. (2014) · Arthritis Research & Therapy · doi:10.1186/s13075-014-0436-x · Cited by 6

The Role of Copy Number Variation in African Americans with Type 2 Diabetes-Associated End Stage Renal Disease

Bailey, J. N. C., Lu, L., Chou, J. W., Xu, J., McWilliams, D. R., Howard, T. D., Freedman, B. I., Bowden, D. W., Langefeld, C. D., & Palmer, N. D. (2013) · Journal of Molecular and Genetic Medicine · doi:10.4172/1747-0862.1000061 · Cited by 6

Whole-genome detection of disease-associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis

Wu, C., Shete, S. S., Jo, E.-J., Xu, Y., Lu, E., Chen, W. V., & Amos, C. I. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds512 · Cited by 6

Novel Gene Associations in Type 1 Diabetes

Ilonen, J., & Hermann, R. (2010) · Current Diabetes Reports · doi:10.1007/s11892-010-0133-3 · Cited by 6

Exploring the hidden heritability of inflammatory bowel disease

Satsangi, J., Kennedy, N. A., Henderson, P., Wilson, D. C., & Nimmo, E. R. (2011) · Gut · doi:10.1136/gutjnl-2011-300804 · Cited by 8

Association study of copy number variants in CCL3L1, FCGR3A and FCGR3B genes with risk of ankylosing spondylitis in a West Algerian population

Dahmani, A., Benzaoui, A., Amroun, H., Zemani‐Fodil, F., Petit, É., & Boudjema, A. (2019) · International Journal of Immunogenetics · doi:10.1111/iji.12454 · Cited by 6

Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations

Hughes, T., Hansson, L. J., Akkouh, I. A., Hajdarevic, R., Bringsli, J. S., Torsvik, A., Inderhaug, E., Steen, V. M., & Djurovic, S. (2020) · Scientific Reports · doi:10.1038/s41598-020-65675-w · Cited by 6

Genome-Wide Association Studies

Duncan, E. L., & Brown, M. A. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00003-4 · Cited by 6

The Contribution of Heredity to Clinical Obesity

Andersson‐Assarsson, J. C., & Walley, A. J. (2010) · Endocrine updates · doi:10.1007/978-1-4419-7034-3_2 · Cited by 6

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

Simpfendorfer, K. R., Li, W., Shih, A., Wen, H., Kothari, H. P., Einsidler, E. A., Wüster, A., Hunkapiller, J., Behrens, T. W., Graham, R., et al. (2019) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2019.100470 · Cited by 6

A Sparse Graph-Structured Lasso Mixed Model for Genetic Association with Confounding CorrectionPreprint

Ye, W., Liu, X., Yue, T., & Wang, W. (2017) · arXiv (Cornell University) · doi:10.48550/arxiv.1711.04162 · Cited by 6

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traitsPreprint

Shanta, O., Klein, M., Sacks, M., MacDonald, J. R., Maihofer, A. X., Ahangari, M. M., Engchuan, W., Thiruvahindrapuram, B., Guevara, J., Hong, O., et al. (2025) · medRxiv · doi:10.1101/2025.07.11.25331310 · Cited by 7

Optimizing a CRISPR-Cas13d Gene Circuit for Tunable Target RNA Downregulation with Minimal Collateral RNA Cutting

Wan, Y., Helenek, C., Coraci, D., & Balázsi, G. (2024) · ACS Synthetic Biology · doi:10.1021/acssynbio.4c00271 · Cited by 5

An Update Evolving View of Copy Number Variations in Autoimmune Diseases

Song, R., Gao, C., Zhao, J., & Zhang, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2021.794348 · Cited by 5

GStream: Improving SNP and CNV Coverage on Genome-Wide Association Studies

Alonso, A., Marsal, S., Tortosa, R., Canela‐Xandri, O., & Julià, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0068822 · Cited by 5

Novel Statistical Tools for Management of Public Databases Facilitate Community-Wide Replicability and Control of False Discovery

Rosset, S., Aharoni, E., & Neuvirth, H. (2014) · Genetic Epidemiology · doi:10.1002/gepi.21799 · Cited by 5

What is Next for the Genetics of Multiple Sclerosis?

Ramagopalan, S. V., & Dyment, D. A. (2011) · Autoimmune Diseases · doi:10.4061/2011/519450 · Cited by 5

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genomePreprint

Kaiser, V. B., Talmane, L., Kumar, Y., Semple, F., MacLennan, M., Study, D. D. D., FitzPatrick, D. R., Taylor, M. S., & Semple, C. A. M. (2021) · Genome Research · doi:10.1101/gr.275407.121 · Cited by 6

Balayage du génome et repérage des personnes à risque

Jordan, B. (2018) · médecine/sciences · doi:10.1051/medsci/2018290 · Cited by 6

Genome-wide association studies for thyroid physiology and diseases

Narumi, S. (2022) · Endocrine Journal · doi:10.1507/endocrj.ej22-0503 · Cited by 4

A crowdsourcing database for the copy-number variation of the Spanish population

López-López, D., Roldán, G., Fernández-Rueda, J. L., Bostelmann, G., Carmona, R., Aquino, V., Pérez-Florido, J., Ortuño, F. M., Pita, G., Núñez‐Torres, R., et al. (2023) · Human Genomics · doi:10.1186/s40246-023-00466-8 · Cited by 6

The ortholog of human ssDNA-binding protein SSBP3 influences neurodevelopment and autism-like behaviors in Drosophila melanogaster

Salim, S., Hussain, S., Banu, A., Gowda, S. B. M., Ahammad, F., Alwa, A., Pasha, M., & Mohammad, F. (2023) · PLoS Biology · doi:10.1371/journal.pbio.3002210 · Cited by 4

The Use of Genetic Information in the Prediction of Type 2 Diabetes

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Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion

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