Whole Exome Sequencing (WES) data analysis for human and related organisms

An exome is a set of all coding sequences in the genome. It is responsible for the production of proteins and constitutes 1.1% of the human genome sequence. Exome sequencing is a viable alternative to whole genome sequencing as it targets only the protein coding regions responsible for most known disease-related variants. Whole exome sequencing is a high quality, affordable and convenient solution for researching complex and rare diseases, cancer research or the human population studies.

Whole exome sequencing experiment consists of several stages: sample preparation, exome capture, library preparation, sequencing and bioinformatic analysis. As Bioidea, we perform the last stage - bioinformatic analysis - for whole exome sequencing (WES) experiments. Our results are well fitted for diagnostic interpretation as well as for science publications.

Our bioinformatic analysis includes QC data quality analysis, mapping reads to the reference genome, SNP/INDEL identification, somatic SNP/INDEL identification, statistics and annotations. We use popular bioinformatics analysis softwares, e.g. BWA, SAMtools, GATK etc. In particular, our bioinformatic pipeline contains annotation of identified genetic elements with the ExAC database (Exome Aggregation Consortium). The ExAC database contains full exome sequencing results for over 60,000 unrelated individuals. The amount of information contained in the ExAC database greatly facilitates the study of disease pathogenesis.

For more information about our bioinformatic analysis, please contact: contact@bioidea.com.pl