Publication details

The impact of choice of reference gene annotation

Authors

OPPELT Jan MRÁZ Marek

Year of publication 2017
MU Faculty or unit

Central European Institute of Technology

Citation
Description Analysis of various sequencing data often relies on so called reference gene annotation. Reference gene annotation describes where the genes are located in a genome, how many there are and how they look like. It sounds simple, but as always there is a catch. Thanks to a progress in massive-parallel sequencing methods we are able to analyze not only genes themselves but also their isoforms. We can also explore differences in expression between samples in different conditions. But before we are able to examine the changes we have to determine the level of expression of each gene. Unfortunately, most of the common model organisms have multiple reference gene annotations curated by different consortia. The main difference lies in required gene evidence – some consortia strictly require experimental evidence whereas some include gene predictions. This results in difference in number of genes and associated isoforms. We analyzed human gene expression data using ? different reference gene annotations and explored the impact on the expression of genes and isoforms. We have observed that choice of the annotation has a considerable impact on the expression levels as well as on the evaluation of differential expression.

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