scholarly journals Accurate and reliable high-throughput detection of copy number variation in the human genome

2006 ◽  
Vol 16 (12) ◽  
pp. 1566-1574 ◽  
Author(s):  
H. Fiegler ◽  
R. Redon ◽  
D. Andrews ◽  
C. Scott ◽  
R. Andrews ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Genome ◽  
High Throughput ◽  
Copy Number ◽  
Number Variation ◽  
High Throughput Detection

Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy

2020 ◽  
Vol 160 (11-12) ◽  
pp. 634-642
Author(s):  
Shiqiang Luo ◽  
Xingyuan Chen ◽  
Tizhen Yan ◽  
Jiaolian Ya ◽  
Zehui Xu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Throughput ◽  
Copy Number ◽  
High Throughput Sequencing ◽  
Chromosomal Abnormalities ◽  
Pregnancy Termination ◽  
Mendelian Inheritance ◽  
Copy Number Variations ◽  
Abnormal Chromosome ◽  
Number Variation

High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities. This study identifies chromosomal abnormalities in aborted embryos/fetuses in early and middle pregnancy and explores the application value of CNV-seq in determining the causes of pregnancy termination. High-throughput sequencing was used to detect chromosome copy number variations (CNVs) in 116 aborted embryos in early and middle pregnancy. The detection data were compared with the Database of Genomic Variants (DGV), the Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER), and the Online Mendelian Inheritance in Man (OMIM) database to determine the CNV type and the clinical significance. High-throughput sequencing results were successfully obtained in 109 out of 116 specimens, with a detection success rate of 93.97%. In brief, there were 64 cases with abnormal chromosome numbers and 23 cases with CNVs, in which 10 were pathogenic mutations and 13 were variants of uncertain significance. An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.

scholarly journals The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism

2010 ◽  
Vol 11 (6) ◽  
pp. 426-431 ◽  
Author(s):  
Hasmik Mkrtchyan ◽  
Madeleine Gross ◽  
Sophie Hinreiner ◽  
Anna Polytiko ◽  
Marina Manvelyan ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Genome ◽  
Copy Number ◽  
Somatic Mosaicism ◽  
Number Variation

scholarly journals CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

2010 ◽  
Vol 11 (1) ◽  
pp. 74 ◽  
Author(s):  
Xiaowu Gai ◽  
Juan C Perin ◽  
Kevin Murphy ◽  
Ryan O'Hara ◽  
Monica D'arcy ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Throughput ◽  
Copy Number ◽  
Clinical Diagnostics ◽  
Integrated Platform ◽  
Number Variation

scholarly journals A copy number variation map of the human genome

2015 ◽  
Vol 16 (3) ◽  
pp. 172-183 ◽  
Author(s):  
Mehdi Zarrei ◽  
Jeffrey R. MacDonald ◽  
Daniele Merico ◽  
Stephen W. Scherer
Keyword(s):  
Copy Number Variation ◽  
Human Genome ◽  
Copy Number ◽  
Number Variation
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