One of the greatest challenges facing the genetics community today is the question of how human genetic variability affects disease and response to treatment. Traditionally,this question has been addressed on a macro level via a gene by gene approach. But as technology continues to advance and tools like next-generation sequencing are more widely available, the significance of variants can be assessed in a more systematic way. With the advent of next-generation sequencing technologies, data interpretation, as opposed to production and annotation, has become the rate-limiting step in research. It may soon be as quick and cost effective to sequence the entire genome as it is to order a single gene test, and so the challenge will continue to grow.
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