Genome Rich Signature


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Details

Genomic approaches to identify a disease and its pattern have gained huge clinical importance in the past decade. Identifying and understanding unique genetic signatures, further allows us to move towards personalized medicine. The concept of personalized medicine relies largely on sequence information of your exome (some instances whole genome), utilized for disease associated diagnostics and customization of therapies. Such genomic information is largely collected by traditional genetic tests that have become increasingly available and through Next Generation Sequencing (NGS) platforms, whose costs have significantly decreased, making it affordable for almost everyone.

Given this background, our efforts are directed towards identifying comprehensive sequence dataset for an individual and detailed evaluation of all genetic variations in an individual or strain as in the case of whole genome sequencing or identifying those genetic variations within your exome, which might be predisposing you to varying degrees of disease risk, assisting you in understanding your "Genome Rich Signature™" involving better health.


BENEFITS

  • Exome sequencing can directly contribute to your understanding of the dynamic nature of your genome.
  • Because exomes focus on exons, the coding regions of genes, the variations within these regions have high impact, making exome sequencing ideal for studying the relationship of such variation to health and disease.

  • Hence, often lead to the identification of specific causative variant(s) of diseases
  • A related and equally important factor is how much shorter it takes to generate exome sequence data as compared to whole genome sequence data.

  • Further, the exome sequence analysis allows us to identify and characterize even the novel variants, that have not yet been reported or studied, expanding its overall utility.

  • On the other end, exome sequencing is far more effective over “genetic panels”, which largely focuses on specific disease(s) (Cancer panels) or a set of similar diseases (X-linked Disease).
  • Most importantly, on an average, the exome sequencing in 112% cheaper than getting many genetic panels done.
  • Also, the interpretation of the exome sequencing data can be constantly updated, with the updated knowledge on genetic variations, with increasing number of databases. However, genetic panels are restricted in this regard, with more of one time use.
  • One major advantage of exome sequencing, that will be difficult to overcome by any other form of sequencing, is the cost of analyzing the exome, which is way smaller. This largely attributed to the paradigm shift in how data are analyzed using cutting edge bioinformatic tools and how these data are securely stored.
  • The lower cost of exome sequencing is probably the primary driver for its increased utilization.