scholarly journals A versatile statistical analysis algorithm to detect genome copy number variation

2004 ◽  
Vol 101 (46) ◽  
pp. 16292-16297 ◽  
Author(s):  
R.-S. Daruwala ◽  
A. Rudra ◽  
H. Ostrer ◽  
R. Lucito ◽  
M. Wigler ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Genome Copy ◽  
Analysis Algorithm ◽  
Number Variation ◽  
Genome Copy Number

scholarly journals Whole-genome copy number variation analysis in anophthalmia and microphthalmia

2013 ◽  
Vol 84 (5) ◽  
pp. 473-481 ◽  
Author(s):  
KF Schilter ◽  
LM Reis ◽  
A Schneider ◽  
TM Bardakjian ◽  
O Abdul-Rahman ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Whole Genome ◽  
Variation Analysis ◽  
Genome Copy ◽  
Copy Number Variation Analysis ◽  
Number Variation ◽  
Genome Copy Number

scholarly journals Copy number variation in female infertility and candidate gene screening for common infertility-related diseases

2021 ◽  
Vol 103 (3) ◽  
pp. 73-79
Author(s):  
Zhainagul Kozhabek ◽  
◽  
Min Pang ◽  
Qiongzhen Zhao ◽  
Jiangyan Yi ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Frequency ◽  
Copy Number ◽  
High Throughput Sequencing ◽  
Female Infertility ◽  
Functional Genes ◽  
Genome Copy ◽  
Sequencing Technologies ◽  
Number Variation ◽  
Genome Copy Number

To investigate the correlation between the genome copy number variation and female infertility we collected 3962 female infertility samples and analyzed copy number variation (CNV) using high-throughput sequencing technologies. In this study 269 CNVs were found in 246 samples, 17 of which were new CNVs. The occurrence of CNVs was mostly found in X chromosome, and some candidate genes related to female infertility were screened. We also found some high frequency CNVs, which contain important functional genes. This study filled the blank of CNV research on female infertility and discovered the characteristics of CNV (CNV preference, recurrent CNV), which provided genetic reference for female infertility.

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