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Next Generation Sequencing Coverage Depths: Sprouting Differences

posted on 8/18/2018 Facebook Facebook

Next generation sequencing is rapidly advancing towards massive parallel genome sequencing for generating personalised DNA based solutions. Commercialisation of NGS in disease prediction, diagnosis and therapy is exponential in recent times with ample features and properties. However, quality of the generated outcome with skilful interpretation makes huge difference in the clinical setting. Having said that, NGS coverage is hugely popular among the medical community. What is with this coverage? Sequencing coverage basically refers to the number of independent reads for a given nucleotide at a specified region of interest in the reconstructed sequence. It is established that at higher levels of coverage, base calling can be executed with a higher degree of confidence. However, levels of coverage is not the only standard for determining the confidence of called outcomes. Higher the coverage may indeed impact positively on the sequencing outcome however should not be the only factor of decision. It is also essential to utilize the appropriate coverage depths for critical clinical applications. To cite a few, in case of a normal (peripheral blood lymphocytes) sequencing for genomic screening, an average coverage of a 100x would be sufficient for a quality outcome whereas in cases of Formalin-Fixed Paraffin-Embedded (FFPE) cancer genomic analysis, an average coverage of 1000x or more would be essential. Genome analysis from the circulating tumor DNA (ctDNA) would require a very high average coverage of about 10,000x to 15,000x for superior clinical interpretation. Utilising the most appropriate genomic sequencing is no more a “discretion” but a “necessity” for best clinical usability. Thus it is with the geneticists to offer the best sequencing outcome for complete clinical usefulness not just limited to the high coverage depths!

Attributes matter together! A well designed sequencing platform for an eminent clinical outcome!

By: Aarthi Ramesh, Scientific Officer, Positive Bioscience

Disclaimer:The opinions expressed in this blog are representative of the author and may not express the views of Positive Bioscience. This blog is intended for education and information for the general public. Before making any medical decisions a medical professional must be consulted. All rights reserved.

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