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1

Schwartz, Stuart. "Clinical Utility of Single Nucleotide Polymorphism Arrays." Clinics in Laboratory Medicine 31, no. 4 (2011): 581–94. http://dx.doi.org/10.1016/j.cll.2011.09.002.

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2

Howard, Nicholas P., Michela Troggio, Charles-Eric Durel, et al. "Integration of Infinium and Axiom SNP array data in the outcrossing species Malus × domestica and causes for seemingly incompatible calls." BMC Genomics 22, no. 1 (2021): 246. https://doi.org/10.1186/s12864-021-07565-7.

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<strong>Background: </strong>Single nucleotide polymorphism (SNP) array technology has been increasingly used to generate large quantities of SNP data for use in genetic studies. As new arrays are developed to take advantage of new technology and of improved probe design using new genome sequence and panel data, a need to integrate data from different arrays and array platforms has arisen. This study was undertaken in view of our need for an integrated high-quality dataset of Illumina Infinium® 20 K and Affymetrix Axiom® 480 K SNP array data in apple (<i>Malus</i> × <i>domestica</i>). In this
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3

Bertok, Sara, Mojca Žerjav Tanšek, Primož Kotnik, et al. "Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki." Slovenian Journal of Public Health 54, no. 2 (2015): 69–73. http://dx.doi.org/10.1515/sjph-2015-0010.

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Abstract Introduction. Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. Methods and results. In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic pro
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4

Wang, Jun, Min Lin, Andrew Crenshaw, et al. "High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic Arrays." BMC Genomics 10, no. 1 (2009): 561. http://dx.doi.org/10.1186/1471-2164-10-561.

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5

da Silva, Fernanda Borges, and Fabiola Traina. "Metaphase cytogenetics and single nucleotide polymorphism arrays in myeloid malignancies." Revista Brasileira de Hematologia e Hemoterapia 37, no. 2 (2015): 71–72. http://dx.doi.org/10.1016/j.bjhh.2015.01.007.

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6

Armstrong, Barbara, Michael Stewart, and Abhijit Mazumder. "Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping." Cytometry 40, no. 2 (2000): 102–8. http://dx.doi.org/10.1002/(sici)1097-0320(20000601)40:2<102::aid-cyto3>3.0.co;2-4.

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7

Sorby, K. L., E. C. Osborne, and T. Osianlis. "Preimplantation genetic screening using single nucleotide polymorphism arrays with parental support." Fertility and Sterility 100, no. 3 (2013): S201. http://dx.doi.org/10.1016/j.fertnstert.2013.07.1358.

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8

Midorikawa, Y., S. Yamamoto, S. Ishikawa, et al. "Molecular karyotyping of human hepatocellular carcinoma using single-nucleotide polymorphism arrays." Oncogene 25, no. 40 (2006): 5581–90. http://dx.doi.org/10.1038/sj.onc.1209537.

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9

Creasey, Thomas, Amir Enshaei, Kathryn Watts, et al. "Single Nucleotide Polymorphism Array-Based Signature of Genetic Ploidy Groups in Acute Lymphoblastic Leukemia." Blood 134, Supplement_1 (2019): 1473. http://dx.doi.org/10.1182/blood-2019-122556.

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Acute lymphoblastic leukemia (ALL) is characterised by a number of recurrent chromosomal abnormalities which inform prognosis. Low hypodiploidy (HoTr) and high hyperdiploidy (HeH) are genetic subgroups associated with large non-random ploidy shifts, specifically 30-39 chromosomes and 51-65 chromosomes respectively. HoTr ALL often presents with a near triploid karyotype of 60-78 chromosomes through chromosomal endoreduplication without cytokinesis. This presents a diagnostic challenge in distinguishing this poor risk entity from good risk HeH ALL. To date, classification of such challenging cas
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10

Dutt, Amit, and Rameen Beroukhim. "Single nucleotide polymorphism array analysis of cancer." Current Opinion in Oncology 19, no. 1 (2007): 43–49. http://dx.doi.org/10.1097/cco.0b013e328011a8c1.

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11

Hiraoka, Yoko, Sergio Pietro Ferrante, Guohong Albert Wu, Claire T. Federici, and Mikeal L. Roose. "Development and Assessment of SNP Genotyping Arrays for Citrus and Its Close Relatives." Plants 13, no. 5 (2024): 691. http://dx.doi.org/10.3390/plants13050691.

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Rapid advancements in technologies provide various tools to analyze fruit crop genomes to better understand genetic diversity and relationships and aid in breeding. Genome-wide single nucleotide polymorphism (SNP) genotyping arrays offer highly multiplexed assays at a relatively low cost per data point. We report the development and validation of 1.4M SNP Axiom® Citrus HD Genotyping Array (Citrus 15AX 1 and Citrus 15AX 2) and 58K SNP Axiom® Citrus Genotyping Arrays for Citrus and close relatives. SNPs represented were chosen from a citrus variant discovery panel consisting of 41 diverse whole-
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12

LaFramboise, T. "Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances." Nucleic Acids Research 37, no. 13 (2009): 4181–93. http://dx.doi.org/10.1093/nar/gkp552.

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13

George, Rani E., Edward F. Attiyeh, Shuli Li, et al. "Genome-Wide Analysis of Neuroblastomas using High-Density Single Nucleotide Polymorphism Arrays." PLoS ONE 2, no. 2 (2007): e255. http://dx.doi.org/10.1371/journal.pone.0000255.

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14

Ikeda, Y., K. Oda, S. Nakagawa, et al. "M313 A DIAGNOSTIC UTILITY OF SINGLE NUCLEOTIDE POLYMORPHISM ARRAYS IN SYNCHRONOUS CARCINOMAS." International Journal of Gynecology & Obstetrics 119 (October 2012): S632. http://dx.doi.org/10.1016/s0020-7292(12)61504-5.

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15

Wirtenberger, Michael, Kari Hemminki, and Barbara Burwinkel. "Identification of Frequent Chromosome Copy-Number Polymorphisms by Use of High-Resolution Single-Nucleotide–Polymorphism Arrays." American Journal of Human Genetics 78, no. 3 (2006): 520–22. http://dx.doi.org/10.1086/500793.

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16

Lu, Ake Tzu-Hui, Steven Bakker, Esther Janson, Sven Cichon, Rita M. Cantor, and Roel A. Ophoff. "Prediction of serotonin transporter promoter polymorphism genotypes from single nucleotide polymorphism arrays using machine learning methods." Psychiatric Genetics 22, no. 4 (2012): 182–88. http://dx.doi.org/10.1097/ypg.0b013e328353ae23.

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17

Ibrahim, Sahar, Arwa M. Salih, Dina Hameed Haider, et al. "Single Nucleotide Polymorphism (SNP) Assays for Disaster Victim Identification (DVI)." Baghdad Journal of Biochemistry and Applied Biological Sciences 6, no. 3 (2025): 131–40. https://doi.org/10.47419/bjbabs.v6i3.371.

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Disaster victim identification (DVI) is crucial in the aftermath of mass casualty events, necessitating rapid and precise identification methods. Single-nucleotide polymorphisms (SNPs) have gained significant prominence in forensic genetics due to their abundance, stability, and ease of analysis. SNPs are highly valuable genetic markers for DVI, particularly because they are insensitive to DNA degradation and possess high annotation potential, making their underlying biological information invaluable for human identification in molecular forensics. Unlike traditional methods, SNP typing offers
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18

Ibrahim, Sahar, Arwa M. Salih, Dina Hameed Haider, et al. "Single Nucleotide Polymorphism (SNP) Assays for Disaster Victim Identification (DVI)." Baghdad Journal of Biochemistry and Applied Biological Sciences 6, no. 3 (2025): 131–40. https://doi.org/10.47419/bjbabs.v6i03.371.

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Disaster victim identification (DVI) is crucial in the aftermath of mass casualty events, necessitating rapid and precise identification methods. Single-nucleotide polymorphisms (SNPs) have gained significant prominence in forensic genetics due to their abundance, stability, and ease of analysis. SNPs are highly valuable genetic markers for DVI, particularly because they are insensitive to DNA degradation and possess high annotation potential, making their underlying biological information invaluable for human identification in molecular forensics. Unlike traditional methods, SNP typing offers
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19

Jankowska, Anna M., Hideki Makishima, Ramon V. Tiu, et al. "Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A." Blood 118, no. 14 (2011): 3932–41. http://dx.doi.org/10.1182/blood-2010-10-311019.

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Abstract Chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, is characterized by monocytic proliferation, dysplasia, and progression to acute myeloid leukemia. CMML has been associated with somatic mutations in diverse recently identified genes. We analyzed 72 well-characterized patients with CMML (N = 52) and CMML-derived acute myeloid leukemia (N = 20) for recurrent chromosomal abnormalities with the use of routine cytogenetics and single nucleotide polymorphism arrays along with comprehensive mutational screening. Cytogenetic aberrations were present in 46
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20

Akagi, T., L. Y. Shih, S. Ogawa, et al. "Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells." Haematologica 94, no. 9 (2009): 1301–6. http://dx.doi.org/10.3324/haematol.2009.005744.

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21

Hoyer, J., A. Dreweke, C. Becker, et al. "Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays." Journal of Medical Genetics 44, no. 10 (2007): 629–36. http://dx.doi.org/10.1136/jmg.2007.050914.

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22

Hiyama, E., H. Yamaoka, A. Kamimatsuse, et al. "Genomewide single nucleotide polymorphism microarray mapping for prediction of outcome of neuroblastoma patients." Journal of Clinical Oncology 24, no. 18_suppl (2006): 9010. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.9010.

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9010 Background: Neuroblastoma is a biologically and genetically heterogeneous tumor and demonstrates favorable or unfavorable outcomes. However, the number of subgroups in neuroblastoma and natural history of each subgroup remain unclear. In Japan, nation-wide neuroblasotma mass-screening (MS) project had been performed on 6-month-old babies for 20 years that might have detected almost all neuroblastomas including regressing/ maturing tumors developed in this period. We surveyed more than 3,600 neuroblasotma cases including approximately 2,000 MS detecting cases. In this study, we examined ge
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23

Ow, T. J., K. Upadhyay, T. J. Belbin, M. B. Prystowsky, H. Ostrer, and R. V. Smith. "Bioinformatics in otolaryngology research. Part two: other high-throughput platforms in genomics and epigenetics." Journal of Laryngology & Otology 128, no. 11 (2014): 942–47. http://dx.doi.org/10.1017/s0022215114002011.

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AbstractObjectives:This second segment of the two-part review summarises several modern high-throughput methods in genomics, epigenetics and molecular biology. Many principles from nucleotide sequencing and transcriptomics can be applied to other high-throughput molecular biology techniques. Specifically, this manuscript reviews: array comparative genome hybridisation; single nucleotide polymorphism arrays; microarray technology, used to study epigenetics; and methodology applied in proteomics. Finally, the review describes current methods for the integration of multiple molecular biology plat
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24

Heinrichs, Stefan, Cheng Li, and A. Thomas Look. "SNP array analysis in hematologic malignancies: avoiding false discoveries." Blood 115, no. 21 (2010): 4157–61. http://dx.doi.org/10.1182/blood-2009-11-203182.

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Comprehensive analysis of the cancer genome has become a standard approach to identifying new disease loci, and ultimately will guide therapeutic decisions. A key technology in this effort, single nucleotide polymorphism arrays, has been applied in hematologic malignancies to detect deletions, amplifications, and loss of heterozygosity (LOH) at high resolution. An inherent challenge of such studies lies in correctly distinguishing somatically acquired, cancer-specific lesions from patient-specific inherited copy number variations or segments of homozygosity. Failure to include appropriate norm
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25

Isubakova, Daria S., Nikolay V. Litviakov, Olga S. Tsymbal, et al. "Association of WNT Gene Polymorphism with Frequency of Cytogenetic Disorders under the Action of Ionizing Radiation." Radiation biology. Radioecology 64, no. 2 (2024): 136–44. http://dx.doi.org/10.31857/s0869803124020037.

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The paper presents the results of a study of the association of single nucleotide polymorphisms of the WNT genes with an increased frequency of cytogenetic disorders in the blood lymphocytes of workers at an ionizing radiation facility exposed to long-term radiation exposure at doses of 100–500 mGy.The object of the study was the blood of 95 apparently healthy workers who were subjected to long-term technogenic external exposure to γ-radiation in doses from 100 to 500 mGy in the course of their professional activities. For all examined individuals, a standard cytogenetic analysis of blood lymp
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26

Dong, S. "Flexible Use of High-Density Oligonucleotide Arrays for Single-Nucleotide Polymorphism Discovery and Validation." Genome Research 11, no. 8 (2001): 1418–24. http://dx.doi.org/10.1101/gr.171101.

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27

Wen, Yalu, Ming Li, and Wenjiang J. Fu. "Catching the Genomic Wave in Oligonucleotide Single-Nucleotide Polymorphism Arrays by Modeling Sequence Binding." Journal of Computational Biology 20, no. 7 (2013): 514–23. http://dx.doi.org/10.1089/cmb.2011.0102.

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28

Lindblad-Toh, Kerstin, David M. Tanenbaum, Mark J. Daly, et al. "Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays." Nature Biotechnology 18, no. 9 (2000): 1001–5. http://dx.doi.org/10.1038/79269.

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29

Wiech, Thorsten, Elisabeth Nikolopoulos, Roland Weis, et al. "Genome-wide analysis of genetic alterations in Barrett's adenocarcinoma using single nucleotide polymorphism arrays." Laboratory Investigation 89, no. 4 (2008): 385–97. http://dx.doi.org/10.1038/labinvest.2008.67.

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30

Wang, Ena, Sharon Adams, and Francesco M. Marincola. "Fluorimetric detection of single nucleotide polymorphism (SNP) by proportional hybridization to oligonucleotide arrays (PHOA)." Human Immunology 63, no. 10 (2002): S57. http://dx.doi.org/10.1016/s0198-8859(02)00579-7.

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31

Xing, Jinchuan, W. Scott Watkins, Yuhua Zhang, David J. Witherspoon, and Lynn B. Jorde. "High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays." Genomics 92, no. 6 (2008): 452–56. http://dx.doi.org/10.1016/j.ygeno.2008.08.007.

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32

Choi, Yong-Sung, Kyung-Sup Lee, and Dae-Hee Park. "Single nucleotide polymorphism (SNP) detection using microelectrode biochip array." Journal of Micromechanics and Microengineering 15, no. 10 (2005): 1938–46. http://dx.doi.org/10.1088/0960-1317/15/10/021.

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33

Marc, Sanidad A., Marilyn L. Slovak, Philip N. Mowry, Joey C. Kelly, and Daniel M. Jones. "Dissecting Clonal Diversity in Complex Leukemia Samples with Next Generation Single Nucleotide Polymorphism (SNP)-Copy Number Arrays,." Blood 118, no. 21 (2011): 3550. http://dx.doi.org/10.1182/blood.v118.21.3550.3550.

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Abstract Abstract 3550 Introduction: The genetic loci altered in many de novo leukemia cases are relatively well-understood and can be accurately assessed by current cytogenetic techniques including multi-probe fluorescence in situ hybridization (FISH). However, identifying the cancer genes involved in complex leukemia karyotypes remains problematic due to the presence of multiple secondary structural rearrangements observed in subclonal populations. These alterations often affect both chromosome (chr) homologues and predominantly involve chr 1, 3, 5, 7, 12 and 17. Such clonal diversity within
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34

Sechi, T., D. W. Coltman, and J. W. Kijas. "Evaluation of 16 loci to examine the cross-species utility of single nucleotide polymorphism arrays." Animal Genetics 41, no. 2 (2010): 199–202. http://dx.doi.org/10.1111/j.1365-2052.2009.01972.x.

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35

Wagenstaller, Janine, Stephanie Spranger, Bettina Lorenz-Depiereux, et al. "Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation." American Journal of Human Genetics 81, no. 4 (2007): 768–79. http://dx.doi.org/10.1086/521274.

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36

Nancarrow, Derek J., Herlina Y. Handoko, B. Mark Smithers, et al. "Genome-Wide Copy Number Analysis in Esophageal Adenocarcinoma Using High-Density Single-Nucleotide Polymorphism Arrays." Cancer Research 68, no. 11 (2008): 4163–72. http://dx.doi.org/10.1158/0008-5472.can-07-6710.

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37

Dellinger, Andrew E., Seang-Mei Saw, Liang K. Goh, Mark Seielstad, Terri L. Young, and Yi-Ju Li. "Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays." Nucleic Acids Research 38, no. 9 (2010): e105-e105. http://dx.doi.org/10.1093/nar/gkq040.

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38

Delgado, Fernanda, Holly K. Tabor, Penny M. Chow, et al. "Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families." Genetics in Medicine 17, no. 5 (2014): 400–404. http://dx.doi.org/10.1038/gim.2014.119.

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39

Gondek, L. P., R. Tiu, A. S. Haddad, et al. "Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS." Leukemia 21, no. 9 (2007): 2058–61. http://dx.doi.org/10.1038/sj.leu.2404745.

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40

Qu, Hui-Qi, Karine Jacob, Sarah Fatet, et al. "Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas." Neuro-Oncology 12, no. 2 (2010): 153–63. http://dx.doi.org/10.1093/neuonc/nop001.

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41

Carr, Jane, Nick P. Bown, Marian C. Case, Andrew G. Hall, John Lunec, and Deborah A. Tweddle. "High-resolution analysis of allelic imbalance in neuroblastoma cell lines by single nucleotide polymorphism arrays." Cancer Genetics and Cytogenetics 172, no. 2 (2007): 127–38. http://dx.doi.org/10.1016/j.cancergencyto.2006.08.012.

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42

Ikeda, Y., K. Oda, S. Nakagawa, et al. "Genome-wide single nucleotide polymorphism (SNP) arrays as a novel diagnostic tool in synchronous carcinomas." Journal of Clinical Oncology 29, no. 15_suppl (2011): 5105. http://dx.doi.org/10.1200/jco.2011.29.15_suppl.5105.

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43

Yang, Jiaqi, Wei Zhang, and Baolin Wu. "A note on statistical method for genotype calling of high-throughput single-nucleotide polymorphism arrays." Journal of Applied Statistics 40, no. 6 (2013): 1372–81. http://dx.doi.org/10.1080/02664763.2013.785499.

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44

Turuspekov, Yerlan, Joerg Plieske, Martin Ganal, Eduard Akhunov, and Saule Abugalieva. "Phylogenetic analysis of wheat cultivars in Kazakhstan based on the wheat 90 K single nucleotide polymorphism array." Plant Genetic Resources 15, no. 1 (2015): 29–35. http://dx.doi.org/10.1017/s1479262115000325.

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The recent introduction of Illumina single nucleotide polymorphism (SNP) arrays is an important step towards comprehensive genome-wide studies of genetic diversity in wheat. In this study, 90 cultivars of hexaploid spring wheat growing in Kazakhstan were genotyped using the high-density wheat 90 K Illumina SNP array. The analysis allowed the identification of 30,288 polymorphic SNPs. A subset of 3541 high-quality SNPs were used for a comparison of 690 wheat accessions representing landraces and varieties, including those from Asia, Australia, Canada, Europe, Kazakhstan, USA and other parts of
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45

Spreiz, Ana, Roberta S. Guilherme, Claudio Castellan, et al. "Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18." Journal of Pediatrics 163, no. 4 (2013): 1174–78. http://dx.doi.org/10.1016/j.jpeds.2013.06.005.

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46

Gómez-Seguí, Inés, Dolors Sánchez-Izquierdo, Eva Barragán, et al. "Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia." PLoS ONE 9, no. 6 (2014): e100245. http://dx.doi.org/10.1371/journal.pone.0100245.

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47

Negro, Sandra S., Emilie J. Millet, Delphine Madur, et al. "Genotyping-by-sequencing and SNP-arrays are complementary for detecting quantitative trait loci by tagging different haplotypes in association studies." BMC Plant Biology 19, no. 1 (2019): 318. https://doi.org/10.1186/s12870-019-1926-4.

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<strong>Background: </strong>Single Nucleotide Polymorphism (SNP) array and re-sequencing technologies have different properties (e.g. calling rate, minor allele frequency profile) and drawbacks (e.g. ascertainment bias). This lead us to study their complementarity and the consequences of using them separately or combined in diversity analyses and Genome-Wide Association Studies (GWAS). We performed GWAS on three traits (grain yield, plant height and male flowering time) measured in 22 environments on a panel of 247 F1 hybrids obtained by crossing 247 diverse dent maize inbred lines with a sam
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48

Lievens, Bart, Loes Claes, Alfons C. R. C. Vanachter, Bruno P. A. Cammue, and Bart P. H. J. Thomma. "Detecting single nucleotide polymorphisms using DNA arrays for plant pathogen diagnosis." FEMS Microbiology Letters 255, no. 1 (2006): 129–39. http://dx.doi.org/10.1111/j.1574-6968.2005.00074.x.

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49

Vogel, Ivan, Lishan Cai, Lea Jerman-Plesec, and Eva R. Hoffmann. "SureTypeSCR: R package for rapid quality control and genotyping of SNP arrays from single cells." F1000Research 10 (September 21, 2021): 953. http://dx.doi.org/10.12688/f1000research.53287.1.

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Genotyping of single cells using single nucleotide polymorphism arrays is a cost-effective technology that provides good coverage and precision, but requires whole genome amplification (WGA) due to the low amount of genetic material. Since WGA introduces noise, we recently developed SureTypeSC, an algorithm to minimize genotyping errors. Here, we present SureTypeSCR, an R package that integrates a state-of-the-art algorithm (SureTypeSC) for noise reduction in single cell genotyping and unites all common parts of genotyping workflow in a single tool. SureTypeSCR is built on top of the tidyverse
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50

Primdahl, H. "Allelic Imbalances in Human Bladder Cancer: Genome-Wide Detection With High-Density Single-Nucleotide Polymorphism Arrays." CancerSpectrum Knowledge Environment 94, no. 3 (2002): 216–23. http://dx.doi.org/10.1093/jnci/94.3.216.

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