关键词：基因组测序技术;参考基因组;基因组计划
摘 要：The decreased cost of genome sequencing technologies has made genome sequencing a viable tool for clinical and populations genomics applications. The efficiency of genome sequencing has been further improved through large projects like the Human Genome Project, which have assembled reference genomes for medically/agriculturally important organisms. These reference quality assemblies have enabled the creation of genome resequencing pipelines, where the genome of a single sample is computed by computing the difference between a given sample and the reference genome for the organism.