Technologies Pipeline

• WES enables comprehensive exon coverage for clinically relevant genomic regions, including sites associated with known disease and UTR (untranslated) regions, providing greater potential for identification of variants, including rare and rare low frequency and is a cost-effective alternative to whole genome sequencing.
• WES is the complete sequencing analysis of the exome of a person with complex phenotypes that affect many organs or body systems, when more than one disorder is suspected, when previous genetic testing has not yielded informative results, or when the possible genetic disorder might not have a specific test available.
• WES as a first medical approach allow the identification of atypical presentations of known disorders, diagnoses in newly established genes or even new candidate genes.
• WES is valuable for those patients who do not fit the picture of a certain phenotype or diagnostic criteria for a particular condition, as well as in cases where known disease genes are negative for pathogenic and probably pathogenic variants or where only a part of the phenotype is explained.
• WES may also be useful to analyze and report candidate variants in genes that are not yet known to be associated with the disease.
• WES reduces the time from presentation to diagnosis, reduces the cost of a diagnosis and has higher diagnostic performance.

These modifications can be influenced by both genetic and environmental factors, they can be long-lasting and, on occasions, heritable. While the role of epigenetic modifications as mediators of transgenerational environmental effects remains controversial, their importance in biological processes and disease development is evident from many association studies of the entire epigenome. Differentially methylated regions of DNA can be used as indicators of disease status for metabolic syndrome, cardiovascular disease, cancer, and many other pathophysiological conditions. Epigenetic signatures are typically tissue specific, and several large consortia are focusing on establishing complete epigenomic maps in multiple human tissues (Roadmap Epigenomics (http://www.roadmapepigenomics.org/ and the International Human Epigenome Consortium; http: //ihec-epigenomes.org/). Furthermore, the data generated by these studies have great potential to improve our functional interpretation of genetic variants that reside in these regions or of epigenetic markers associated with disease regardless of genetic variation. Associated technology includes the evaluation of DNA modifications using NGS.

Detection of microRNAs (miRNAs) are a class of small noncoding RNA fragments (22 nucleotides) involved in the regulation of gene expedition at the post-translational level that regulate gene expression by degrading their target RNA and / or inhibiting their translation.

There are substantial variations in microbiota composition between individuals that result from birth and development, diet and other environmental factors, drugs, and age. The microbiome can be profiled by amplifying and then sequencing certain hypervariable regions of bacterial 16S rRNA genes followed by clustering of sequences into operational taxonomic units. Shotgun-like metagenomic sequencing, in which total DNA is sequenced, can provide additional resolution to distinguish genetically close microbial species. Several analysis tools have been developed to analyze NGS data from targeted 16S or metagenomic analysis, such as QIIME (Quantitative Insights into Microbe Ecology). These allow for precise quantitative taxonomic determination that can be correlated with diseases or other phenotypes of interest. Associated technologies include the application of NGS for 16S ribosome abundance and quantification of metagenomics.

The set of all the genomes of detectable microbes constitutes the metagenome and the analysis of their diversity allows us to know the role of the microbiome in relation to health, nutrition, immunity and disease and the development of new treatments. Bacteria commonly found on the skin could help protect us from skin cancer or even respond differently to the same food. It allows the analysis of the diversity of the microbiome to know its role in relation to health, nutrition, immunity and disease and the development of new treatments. With this we will reveal if the microbiome helps digest food, regulate the immune system, its degree of protection against pathogenic bacteria and also know if its bacteria contribute adequately to produce vitamins (B, B12, thiamine, riboflavin, vitamin K necessary for blood clotting). It will help detect changes in the microbiome that are associated with diabetes, rheumatoid arthritis, muscular dystrophy, multiple sclerosis, and fibromyalgia. It will also facilitate us to know the family inheritance of the microbiome and aspects of great interest in terms of the response to drugs and the quality of our sleep.

Affinity purification are methods in which a molecule is isolated using an antibody or a genetic tag and then mass spectrometry (MS) is applied to identify any associated proteins. Affinity methods, sometimes coupled with chemical crosslinking, have been adapted to examine global interactions between proteins and nucleic acids (eg, ChIP-Seq). Finally, the functions of a large fraction of proteins are mediated by post-translational modifications such as proteolysis, glycosylation, phosphorylation, nitrosylation, and ubiquitination. Such modifications play a key role in intracellular signaling, control of enzyme activity, protein turnover and transport, and maintenance of general cellular structure. MS can be used to directly measure such covalent modifications to define the corresponding shift in protein mass (compared to the unmodified peptide). There are studies that develop the analysis of such modifications at the genome level. Associated technologies include MS-based approaches to investigate interactions and quantification of the global proteome and post-translational modifications.