Already, variations in the composition of about 500,000 DNA building blocks (SNPs or Single Nucleotide Polymorphisms), spread over the total length of the DNA and shown to correlate with particular physical and behavioral characteristics or susceptibility to diseases, are being analyzed routinely. Major errors in DNA composition that are responsible for about 3,000 of the 7,000 known genetic diseases can be visualized, and efforts are underway to identify the causes of the remaining 4,000.
约500 000个DNA功能模块的变种（单核苷酸多态性，SNP，它们遍布DNA的整个长度，并被证明与某些生理和行为特征或疾病敏感性相关）正在接受常规分析。与7000种已知遗传病中的近3000种有关的DNA组成重大缺陷已经找到，其余4000种疾病的病因也在努力识别中。