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概要

Three Essential Factors in Whole-Genome Sequencing for Clinical Applications

Abhishek Narain Singh, Krishan Pal

The advent of next-generation sequencing has now become main stream in clinical practice recently after spending close to a decade and a half in developing the technology and data science software applications for making sense of the technology impact. Various algorithms have been deployed with a mixed reaction in terms of usability as there are benefits and drawbacks in each one of the methods be it related to computational complexity, computational resources to be deployed, or the precision of results in terms of false-positive and false-negative association. This article essentially talks about some of the three essential best practices in the use of next-generation sequencing technology particularly for whole-genome sequencing to clinical use for rare disease diagnostics.