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Pyrosequencing?-based SNP allele frequency estimation in DNA pools by Catharina Lavebratt; Selim Sengul; Marten Jansson; Martin Schalling is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Communicated by Ann-Christine Syvanen Association screening involving numerous genetic markers is facilitated by the analysis of pooled DNA samples rather than individual samples. Several genotyping methods have shown high accuracy and precision of allele frequency estimation in pools. Here, we expand the validation of SNP allele frequency estimation in DNA pools using Pyrosequencingt by analyzing 186 pools for three SNPs representing complex sequencing cases. The correlation coefficient between estimated and true allele frequencies ranged between 0.979 and 0.996 and tended to increase with pool size, whereas the difference between estimated and true allele frequencies was 2.3770.11%, in post-PCR pools. The precision was 1.73%. Pool size had no significant effect on accuracy and precision. A comparison between post-PCR and pre-PCR pools showed that for pre-PCR pooling efforts to accurately quantify the genomic DNA samples to be pooled and subsequently amplified are critical. To conclude, Pyrosequencingt can be used for allele frequency estimation in DNA pools of SNPs with complex sequencing scenarios with accuracy and precision values in ranges comparable with those of other SNP

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Author

Catharina Lavebratt; Selim Sengul; Marten Jansson; Martin Schalling

Publisher

Hindawi Limited

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)