Department of Genetics, Stanford University School of Medicine, California 94305, USA.
Genes Dev. 2010 Mar 1;24(5):423-31. doi: 10.1101/gad.1864110.
The revolution in DNA sequencing technologies has now made it feasible to determine the genome sequences of many individuals; i.e., "personal genomes." Genome sequences of cells and tissues from both normal and disease states have been determined. Using current approaches, whole human genome sequences are not typically assembled and determined de novo, but, instead, variations relative to a reference sequence are identified. We discuss the current state of personal genome sequencing, the main steps involved in determining a genome sequence (i.e., identifying single-nucleotide polymorphisms [SNPs] and structural variations [SVs], assembling new sequences, and phasing haplotypes), and the challenges and performance metrics for evaluating the accuracy of the reconstruction. Finally, we consider the possible individual and societal benefits of personal genome sequences.
DNA 测序技术的革命使得确定许多个体的基因组序列成为可能；即“个人基因组”。已经确定了正常和疾病状态下细胞和组织的基因组序列。使用当前的方法，通常不会从头组装和确定整个人类基因组序列，而是识别相对于参考序列的变体。我们讨论了个人基因组测序的现状、确定基因组序列所涉及的主要步骤（即识别单核苷酸多态性 (SNP) 和结构变异 (SV)、组装新序列和相位单倍型），以及评估重建准确性的挑战和性能指标。最后，我们考虑了个人基因组序列可能带来的个人和社会利益。
