scholarly journals An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

10.3791/56470 ◽  
2017 ◽  
Author(s):  
Yuhui Chen ◽  
Xianfu Wang ◽  
Shunfei Lu ◽  
Hongcheng Wang ◽  
Shibo Li ◽  
...  
Keyword(s):  
Fast Neutron ◽  
Comparative Genomic Hybridization ◽  
Medicago Truncatula ◽  
Copy Number ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Efficient Detection

scholarly journals Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

2011 ◽  
Vol 57 (11) ◽  
pp. 1584-1596 ◽  
Author(s):  
Giulio Piluso ◽  
Manuela Dionisi ◽  
Francesca Del Vecchio Blanco ◽  
Annalaura Torella ◽  
Stefania Aurino ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Copy Number ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Specific Gene ◽  
Disease Genes ◽  
Genomic Hybridization ◽  
Gene Coverage

BACKGROUND Array-based comparative genomic hybridization (aCGH) is a reference high-throughput technology for detecting large pathogenic or polymorphic copy-number variations in the human genome; however, a number of quantitative monogenic mutations, such as smaller heterozygous deletions or duplications, are usually missed in most disease genes when proper multiplex ligation-dependent probe assays are not performed. METHODS We developed the Motor Chip, a customized CGH array with exonic coverage of 245 genes involved in neuromuscular disorders (NMDs), as well as 180 candidate disease genes. We analyzed DNA samples from 26 patients with known deletions or duplications in NMDs, 11 patients with partial molecular diagnoses, and 19 patients with a clinical diagnosis alone. RESULTS The Motor Chip efficiently confirmed and refined the copy-number mutations in all of the characterized patients, even when only a single exon was involved. In noncharacterized or partially characterized patients, we found deletions in the SETX (senataxin), SGCG [sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)], and LAMA2 (laminin, alpha 2) genes, as well as duplications involving LAMA2 and the DYSF [dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)] locus. CONCLUSIONS The combination of exon-specific gene coverage and optimized platform and probe selection makes the Motor Chip a complementary tool for molecular diagnosis and gene investigation in neuromuscular diseases.

scholarly journals Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

2009 ◽  
Vol 18 (2) ◽  
pp. 227-232 ◽  
Author(s):  
Valérie Malan ◽  
Suzanne Chevallier ◽  
Gwendoline Soler ◽  
Christine Coubes ◽  
Didier Lacombe ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
High Frequency ◽  
Copy Number ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Genomic Hybridization

Analysis of DNA sequence copy number variations by comparative genomic hybridization (CGH)

1995 ◽  
Vol 84 (2) ◽  
pp. 138
Author(s):  
D. Pinkel ◽  
Y.P. Shi ◽  
J. Gray ◽  
G. Mohapatra ◽  
B. Feuerstein ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Comparative Genomic Hybridization ◽  
Copy Number ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Genomic Hybridization
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