BAC sequencing of Human specific duplications. Homo sapiens

Human specific duplications are dynamic regions of rapid genomic structural change and hotspots for disease causing mutation as well as the evolution of human-specific traits. These areas of the genome are difficult to sequence and poorly understood. This study aims to characterize these regions using BAC clones in six human genomes from diverse populations to understand the structure and evolution of these regions in humans around the world.

人类特异性重复序列（Human-specific duplications）是一类呈现快速基因组结构变异的动态区域，同时亦是致病突变发生与人类特异性性状演化的热点区域。此类基因组区域测序难度颇高，目前学界对其认知仍较为有限。本研究拟借助细菌人工染色体（Bacterial Artificial Chromosome, BAC）克隆技术，对来自不同人群的六个人类基因组中的此类区域开展表征分析，以阐明全球人群中该类区域的结构特征与演化规律。