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So let’s examine the current state of sense making, how the field is progressing, and the challenges that lay ahead.Motivation Behind Next-Generation Sequencing To properly discuss the methods and techniques of sequence analysis, we need to step back and understand the motivation behind using sequencing to search for genetic effects.
Simply put, with the impending ability to customize microarrays, a small scale preliminary sequencing of affected individuals can be done to provide an enriched panel of rare and common variants specific to the disease population.But thankfully, as raw data is processed down to just the differences between genomes, we are dealing with rich and accurate information that can easily be handled by researchers on their own terms.In Part 1 of this series, I followed the story of how this revolution came about through the innovation of companies competing during and after the years of the Human Genome Project.The advances in DNA sequencing are another magnificent technological revolution that we’re all excited to be a part of.Similar to how the technology of microprocessors enabled the personalization of computers, or how the new paradigms of web 2.0 redefined how we use the internet, high-throughput sequencing machines are defining and driving a new era of biology.
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In Part 2, I enumerated the tiers of analysis that start at processing the parallel measurements of the current generation’s high throughput sequencing machines, and ends with genomic variants of sequenced samples.