The BisPCR(2) method for targeted bisulfite sequencing

BisPCR(2) 靶向亚硫酸氢盐测序方法

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作者:Diana L Bernstein, Vasumathi Kameswaran, John E Le Lay, Karyn L Sheaffer, Klaus H Kaestner

Background

DNA methylation has emerged as an important regulator of development and disease, necessitating the design of more efficient and cost-effective

Conclusion

This study presents a robust, efficient, and cost-effective technique for targeted bisulfite NGS, and illustrates its utility by reanalysis of prior findings from genome-wide studies.

Results

We have applied the BisPCR(2) technique to validate differential methylation at several type 2 diabetes risk loci identified in genome-wide studies of human islets. We confirmed some previous findings while not others, in addition to identifying novel differentially methylated CpGs at these genes of interest, due to the much higher depth of sequencing coverage in BisPCR(2) compared to prior array-based approaches.

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