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人类遗传学的一个重要问题是如何鉴别那些能改变基因表达水平的多态性。通过对不同个体外显子序列的重新测序,可较容易地将编码区的多态性进行分类,而调控性SNPs因陷于基因附近的多态性“海洋”中,很难被准确描述。因此需要很多不同的策略来建立调控性多态的数据库。
An important issue in human genetics is how to identify those polymorphisms that can alter gene expression levels. Polymorphisms in the coding regions can be more easily classified by sequencing the exon sequences of different individuals, whereas regulatory SNPs are difficult to be accurately characterized by being trapped in the “ocean” of polymorphisms near the gene. So a lot of different strategies are needed to build a database of regulatory polymorphisms.