Whole Genome Analysis of Copy Number Variations in Taiwan Populations: A Data Resource for Clinical and Research Applications
Date Issued
2010
Date
2010
Author(s)
Chen, Pei-fen
Abstract
Copy number variation is a source of genetic diversity in humans. CNVs can cause Mendelian or sporadic traits, be associated with complex disease, also represent benign polymorphic variants between individuals. However, CNVs information of Asian populations remains unexplored. We identified CNV distribution of 1015 individuals in Taiwan populations by using CMDX Bac Array CA2500/ CA3000 and find 438 loci with CNV signals. The CNV frequencies of six regions are over 20%. Most CNVs (92.44%) size are shorter than 1 Mb. Average CNV number in each individual is 4.36. Among CNV regions, 54.79% regions overlap with segmental duplication, 64.49% regions cover gene, 92.47% regions are reported in previous study, only 7.53% regions are novel in this study. In contrast to previous studies, CNVs identified are much less than the platform with high resolution. But it lower disturbance in clinical pathologic diagnosis for this reason. So, Bac array used in this study is more appropriate for prenatal, clinical diagnosis. This study establish CNV map of Taiwan populations for further reference of genetic consulting.
Subjects
Copy Number Variation
Heteromorphism
Non-Allelic Homomlogous Recombination
Non Homologous End Junction
Comparative Genomic Hybridization
SDGs
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