Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Authors: Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir

Source: Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)

Subject Terms: genetic testing, PAFAH1B1, SCN1A, SNP arrays, structural variants, whole‐genome sequencing, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/3103487ddc324b14b1add1c9184bb83f

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Authors: Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng

Source: Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: Chromosomal microarray, Prenatal diagnosis, Regions of homozygosity, SNP arrays, Uniparental disomy, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/107cfda82f7d4ccf93b7498e80d5d9b3

Application of the FISH method and high-density SNP arrays to assess genetic changes in neuroblastoma—research by one institute

Authors: Dorota Winnicka, Paulina Skowera, Magdalena Stelmach, Borys Styka, Monika Lejman

Source: Acta Biochimica Polonica, Vol 71 (2024)

Subject Terms: neuroblastoma, childhood tumours, MYCN amplification, high-density SNP arrays, FISH, Biochemistry, QD415-436, Organic chemistry, QD241-441, Chemistry, QD1-999, Science

File Description: electronic resource

Relation: https://www.frontierspartnerships.org/articles/10.3389/abp.2024.12821/full; https://doaj.org/toc/1734-154X

Access URL: https://doaj.org/article/3833e841a4e94c6998798a9d4a27900d

Assessing the levels of intraspecific admixture and interspecific hybridization in Iberian wild goats (Capra pyrenaica)

Authors: Tainã Figueiredo Cardoso, María Gracia Luigi‐Sierra, Anna Castelló, Betlem Cabrera, Antonia Noce, Emilio Mármol‐Sánchez, Ricardo García‐González, Alberto Fernández‐Arias, José Luis Alabart, Jorge Ramón López‐Olvera, Gregorio Mentaberre, José Enrique Granados‐Torres, Jesús Cardells‐Peris, Antonio Molina, Armand Sànchez, Alex Clop, Marcel Amills

Source: Evolutionary Applications, Vol 14, Iss 11, Pp 2618-2634 (2021)

Subject Terms: Capra pyrenaica, genetic diversity, high‐density SNP arrays, Iberian ibex, introgression, Evolution, QH359-425

File Description: electronic resource

Relation: https://doaj.org/toc/1752-4571

Access URL: https://doaj.org/article/f7aae90971ef474fbd74a7ae643b4c08

A survey of direct-to-consumer genotype data, and quality control tool (GenomePrep) for research

Authors: Chang Lu, Bastian Greshake Tzovaras, Julian Gough

Source: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 3747-3754 (2021)

Subject Terms: Genotyping, Direct-to-consumer sequencing, Open genome, Personal genome, SNP arrays, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037021002786; https://doaj.org/toc/2001-0370

Access URL: https://doaj.org/article/b30848b348304fe4a2776b0b54fa6402

A Method to Correct Systematic Bias in Affymetrix SNP Arrays

Authors: Wan, Lin, Fu, Wenjiang J., Deng, Minghua, Qian, Minping

Source: 2008 International Conference on BioMedical Engineering and Informatics BioMedical Engineering and Informatics, 2008. BMEI 2008. International Conference on. 1:442-446 May, 2008

Relation: 2008 International Conference on Biomedical Engineering And Informatics (BMEI)

Chapter 99 - Chromosome Disorders

Authors: Bacino, Carlos A., Lee, Brendan

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:760-777

A Causality Perspective of Genomic Breed Composition for Composite Animals

Authors: Xiao-Lin Wu, Zhi Li, Yangfan Wang, Jun He, Guilherme J. M. Rosa, Ryan Ferretti, John Genho, Richard G. Tait, Jamie Parham, Tom Schultz, Stewart Bauck

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: beef cattle, crossbred animals, genomic composition, SNP arrays, path analysis, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.546052/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d451d8a519834e729ab320afdde25c60

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

Authors: Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu

Source: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-6 (2017)

Subject Terms: Xq21, Choroideremia, Deafness, Mental retardation, SNP arrays, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13039-017-0324-6; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/ef8bc1919f464946a4e8524ffbd00ffe

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

Authors: Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Giorgia Girotto

Source: Frontiers in Genetics, Vol 9 (2018)

Subject Terms: targeted re-sequencing, SNP arrays, hereditary hearing loss, italian families, molecular diagnosis, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00681/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/4aac6c1292fa4eeebf88317e738de9f8

Use of High Density Single Nucleotide Polymorphism (SNP) Arrays to Assess Genetic Diversity and Population Structure of Dairy Cattle in Smallholder Dairy Systems: The Case of Girinka Programme in Rwanda

Authors: Mizeck G. G. Chagunda, Fidalis D. N. Mujibi, Theogene Dusingizimana, Olivier Kamana, Evans Cheruiyot, Okeyo A. Mwai

Source: Frontiers in Genetics, Vol 9 (2018)

Subject Terms: genetic diversity, population structure, dairy cattle, smallholder, SNP arrays, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00438/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/634580c249e5414faaeba04200bb3657

Homozygous Frameshift Mutation in TMCO1 Causes a Syndrome with Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation

Authors: Xin, Baozhong, Puffenberger, Erik G., Turben, Susan, Tan, Haiyan, Zhou, Aimin, Wang, Heng, de la Chapelle, Albert

Source: Proceedings of the National Academy of Sciences of the United States of America, 2010 Jan 01. 107(1), 258-263.

Access URL: https://www.jstor.org/stable/40536261

Association of Survival and Disease Progression with Chromosomal Instability: A Genomic Exploration of Colorectal Cancer

Authors: Sheffer, Michal, Bacolod, Manny D., Zuk, Or, Giardina, Sarah F., Pincas, Hanna, Barany, Francis, Paty, Philip B., Gerald, William L., Notterman, Daniel A., Domany, Eytan, Shenk, Thomas E.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2009 Apr . 106(17), 7131-7136.

Access URL: https://www.jstor.org/stable/40483386

Integrated Analysis of Homozygous Deletions, Focal Amplifications, and Sequence Alterations in Breast and Colorectal Cancers

Authors: Leary, Rebecca J., Lin, Jimmy C., Cummins, Jordan, Boca, Simina, Wood, Laura D., Parsons, D. Williams, Jones, Siân, Sjöblom, Tobias, Park, Ben-Ho, Parsons, Ramon, Willis, Joseph, Dawson, Dawn, Willson, James K. V., Nikolskaya, Tatiana, Nikolsky, Yuri, Kopelovich, Levy, Papadopoulos, Nick, Pennacchio, Len A., Wang, Tian-Li, Markowitz, Sanford D., Parmigiani, Giovanni, Kinzler, Kenneth W., Vogelstein, Bert, Velculescu, Victor E.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2008 Oct . 105(42), 16224-16229.

Access URL: https://www.jstor.org/stable/25465073

Hidden Markov Models for the Assessment of Chromosomal Alterations Using High-Throughput SNP Arrays

Authors: Scharpf, Robert B., Parmigiani, Giovanni, Pevsner, Jonathan, Ruczinski, Ingo

Source: The Annals of Applied Statistics, 2008 Jun 01. 2(2), 687-713.

Access URL: https://www.jstor.org/stable/30244223

A genome-wide detection of copy number variations using SNP genotyping arrays in swine

Authors: Wang Jiying, Jiang Jicai, Fu Weixuan, Jiang Li, Ding Xiangdong, Liu Jian-Feng, Zhang Qin

Source: BMC Genomics, Vol 13, Iss 1, p 273 (2012)

Subject Terms: Copy number variations, Genetic variation, SNP arrays, Quantitative real time PCR, Pig, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/13/273; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/6495f99b65ad4d5b9a418c9d3cc6bde4

Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies

Authors: Xu Fang, Cheng Elaine, Hoyt Kathleen, Bacchiocchi Antonella, Narayan Deepak, Ariyan Stephan, Parisi Fabio, Li Peining, Halaban Ruth, Kluger Yuval

Source: BMC Genomics, Vol 12, Iss 1, p 230 (2011)

Subject Terms: copy number, SNP arrays, Next generation sequencing, melanoma, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/12/230; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/cfaf9357a5574aeaa8e8941bdb329d8a

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