Whole Exome Sequencing (WES) consists of the analysis of the coding regions of the genome and are considered an alternative to Whole Genome Sequencing (WGS) when the objective of our study allows it. Bioinformatics analysis of data generated from WES includes quality control of sequences obtained from sequencing, mapping and detection of variants against the reference genome and annotation.

It allows the analysis of the complete genome sequence of an organism. Bioinformatics analysis of data generated from WGS includes quality control of sequences obtained from sequencing, mapping and detection of variants against the reference genome (SNVs, CNVs and microsatellites) and annotation.

In some types of samples, especially in oncology, it is important to determine the variants present in a cell group and, whether these are somatic mutations or if they belong to the germline. The service we offer allows mapping and variant calling against a reference genome, as well as the variants annotation present only at the somatic level (tumor). These data can be analyzed from frozen or paraffin-embedded (lower quality) samples and detects both SNVs, CNVs, and microsatellites.

Mitochondrial DNA has important roles at the cellular level. Alterations in this DNA can lead to diseases. In addition, the mitochondrial genome provides us information on biodiversity. The bioinformatics analyses allow us to detect changes in mitochondrial DNA and to assess the degree of cellular heteroplasmy, that means the coexistence of several mitochondrial populations in the same cell.

Amplicon genotyping allows specific regions sequencing providing us with relevant information for the study we are carrying out, being able to obtain the sequences of complete gene panels, specific polymorphisms, etc. It can be applied to many fields, including pharmacogenetics. In addition, by analyzing single nucleotide variants (SNVs) we can identify samples.

We offer analysis of data originated from sequencing based on long-reads, short-reads or by combining both to obtain more accurate data.