Researchers from the Centro Nacional de Análisis Genómico (CNAG) and the German Research Center for Environmental Health (GmbH) have published a paper in BMC Genomics highlighting the power of mouse exome sequencing and analysis to identify mutations and genes related to certain phenotypes.

The CNAG captured, sequenced and analysed the exome of several phenotypic model mouse strains that had been generated by ENU-induced mutagenesis. Instead of aligning the exome sequencing data against the common mouse reference (mm9), the researchers aligned it to the non-annotated genome reference draft of a strain closer to the one used to generate the mutant strains. This procedure minimised the differences between the exome sequence and the genome reference and resulted in a shorter list of candidate nucleotide variants. Finally, the annotation lift-over from mm9 by sequence similarity searches restricted the results to exonic variants between 1 and 23 genes for each of the strains.

About exome sequencing
Exome sequencing is one of the main sequencing applications developed at the CNAG. The exome represents less than 2% of the human genome, but contains ~85% of known disease-causing variants.
With exome sequencing the protein coding regions of the genome can be investigated. It can efficiently identify variants across a wide range of applications, including population genetics, genetic disease, and cancer studies.

Work of reference:
Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over