Exome Analysis

Exome sequencing aims to sequence only the parts of the genome that codes proteins. Even though exome, which can be described as the collection of all coding regions of the DNA, consititues less than 2% of human genome, it is known to contain a large number (85%) of disease causing variants. Therefore, in cases where whole genome sequencing is not necessary, exome sequencing can be considered as a faster and cost-efficient alternative. Exome sequencing data can be analysed in order to gain knowledge about various disease related genomic variations – from SNPs and indels to chromosomal rearrangements and copy number variations.

In the context of exome analysis, Epigenetiks carries out several bioinformatics tasks including base calling, alignment, variation analysis and annotation and filtering in order to give meaning to your genome data.