scholarly journals Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH

2015 ◽  
Vol 5 (6) ◽  
pp. 1253-1261 ◽  
Author(s):  
J. Wang ◽  
J. Jiang ◽  
H. Wang ◽  
H. Kang ◽  
Q. Zhang ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Pig Breeds

scholarly journals Identification of genome-wide copy number variations among diverse pig breeds by array CGH

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 725 ◽  
Author(s):  
Yan Li ◽  
Shuqi Mei ◽  
Xuying Zhang ◽  
Xianwen Peng ◽  
Gang Liu ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Pig Breeds ◽  
Genome Wide

scholarly journals Genomic imbalances detected through array CGH in fetuses with holoprosencephaly

2011 ◽  
Vol 69 (1) ◽  
pp. 3-8 ◽  
Author(s):  
Isabela Nelly Machado ◽  
Juliana Karina Heinrich ◽  
Ricardo Barini
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Molecular Technique ◽  
Whole Genome ◽  
Genomic Imbalances ◽  
Whole Genome Microarray ◽  
Gains And Losses

OBJECTIVE: Holoprosencephaly (HPE) is heterogeneous in pathogenesis, integrating genetic susceptibility with the influence of environmental factors. Submicroscopic aberrations may contribute to the etiology of HPE. Our aim was to report the molecular analysis of 4 fetuses with HPE and normal metaphase karyotype. METHOD: A whole genome BAC-array based Comparative Genomic Hybridization (array CGH) was carried out in fetal blood samples. All potential cytogenetic alterations detected on the arrays were matched against the known copy number variations databases. RESULTS: The array CGH analysis showed copy number gains and losses in all cases. We found a recurrent deletion in 15q14 (clone RP11-23J11) and in 15q22 (clone RP11-537k8) in 2 out 4 cases analyzed. We also observed submicroscopic gain in 6p21 in 3 out of 4 fetuses in nearby clones. All these regions were tested in known databases and no copy number variations have been described for them. CONCLUSION: This is the first report of molecular characterization through a whole genome microarray CGH of fetuses with HPE. Our results may contribute to verify the effectiveness and applicability of the molecular technique of array CGH for prenatal diagnosis purposes, and contributing to the knowledge of the submicroscopic genomic instability characterization of HPE fetuses.

High-resolution genome-wide array-CGH reveals copy number variations associated with premature ovarian failure

Placenta ◽  
2011 ◽  
Vol 32 ◽  
pp. S282
Author(s):  
Paola Scaruffi ◽  
Sara Stigliani ◽  
Annamaria Jane Nicoletti ◽  
Pier Luigi Venturini ◽  
Gian Paolo Tonini ◽  
...  
Keyword(s):  
High Resolution ◽  
Premature Ovarian Failure ◽  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Ovarian Failure ◽  
Genome Wide

scholarly journals Characterization of Copy Number Variations in Oral Cavity Squamous Cell Carcinoma Reveals a Novel Role for MLLT3 in Cell Invasiveness

2019 ◽  
Vol 24 (12) ◽  
Author(s):  
Chun‐I Wang ◽  
Huang‐Kai Kao ◽  
Ting‐Wen Chen ◽  
Yenlin Huang ◽  
Hsing‐Wen Cheng ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Cavity ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Copy Number ◽  
Copy Number Variations ◽  
Cell Invasiveness

scholarly journals Analysis of Genome-Wide Copy Number Variations in Chinese Indigenous and Western Pig Breeds by 60 K SNP Genotyping Arrays

PLoS ONE ◽  
2014 ◽  
Vol 9 (9) ◽  
pp. e106780 ◽  
Author(s):  
Yanan Wang ◽  
Zhonglin Tang ◽  
Yaqi Sun ◽  
Hongyang Wang ◽  
Chao Wang ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variations ◽  
Snp Genotyping ◽  
Pig Breeds ◽  
Genome Wide

scholarly journals CNVDetector: locating copy number variations using array CGH data

2008 ◽  
Vol 24 (23) ◽  
pp. 2773-2775 ◽  
Author(s):  
Peng-An Chen ◽  
Hsiao-Fei Liu ◽  
Kun-Mao Chao
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations

scholarly journals Identification of Genome-Wide Copy Number Variations among Diverse Pig Breeds Using SNP Genotyping Arrays

PLoS ONE ◽  
2013 ◽  
Vol 8 (7) ◽  
pp. e68683 ◽  
Author(s):  
Jiying Wang ◽  
Haifei Wang ◽  
Jicai Jiang ◽  
Huimin Kang ◽  
Xiaotian Feng ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variations ◽  
Snp Genotyping ◽  
Pig Breeds ◽  
Genome Wide

scholarly journals Characteristics of Highly Polymorphic Segmental Copy-Number Variations Observed in Japanese by BAC-Array-CGH

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
Norio Takahashi ◽  
Yasunari Satoh ◽  
Keiko Sasaki ◽  
Yuko Shimoichi ◽  
Keiko Sugita ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Copy Number ◽  
Array Cgh ◽  
Artificial Chromosome ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Bac Clones ◽  
Japanese Cohort ◽  
The Individual ◽  
Chromosome Microarray

Segmental copy-number variations (CNVs) may contribute to genetic variation in humans. Reports of the existence and characteristics of CNVs in a large Japanese cohort are quite limited. We report the data from a large Japanese population. We conducted population screening for 213 unrelated Japanese individuals using comparative genomic hybridization based on a bacterial artificial chromosome microarray (BAC-aCGH). We summarize the data by focusing on highly polymorphic CNVs in ≥5.0% of the individual, since they may be informative for demonstrating the relationships between genotypes and their phenotypes. We found a total of 680 CNVs at 16 different BAC-regions in the genome. The majority of the polymorphic CNVs presented on BAC-clones that overlapped with regions of segmental duplication, and the majority of the polymorphic CNVs observed in this population had been previously reported in other publications. Some of the CNVs contained genes which might be related to phenotypic heterogeneity among individuals.

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