Whole exome sequencing methodology section

Rapley R. The largest publicly accessible set of human genomic sequence data available today originates from exome sequencing that comprises around 1. At half the size of the TargetEC platform, the probe set presents a more feasible approach to WES analysis in the rat. Missense mutations were recognized in Ncor1 and Pik3ca , oncogenes of central importance to human cancer as known driver mutations.

Exome Sequencing

Revised 01 July 2017. The laboratory rat is a useful mammalian model for the translation and validation of human gene-function discovery toward understanding the interplay between genetics, environmental influences and disease biology.

Since these tissues do not undergo formalin fixation and processing at high temperatures, the DNA integrity is not altered. The sequence results obtained by this method is only as good as the reference genome chosen; however, it can provide better identification of single nucleotide polymorphisms SNPs. S 9 shows a distribution of scores. Sci Data. Dotted lines are tested but showed a larger difference. Quality score Every call is annotated with a quality score reflecting the percentage of reliable target regions.

Click on the below to view products for each workflow step. PCA plots were visualized by ggplot2 version 2. Front Environ Sci.

Whole exome sequencing in the rat

By assuming a sparse number of CNVs, the target region read counts of the reference set represent the within-sample variation of a diploid read count for the associated target region. Performance characteristics include the number of reads per base for each exon and uniformity for depth of coverage. Competing interests The authors declare that they have no competing interests.

Learn more about causal variant discovery. Genome Res.