UC Santa Cruz Genomics Institute and Department of Biomedical Engineering, University of California, Santa Cruz, California 95064, USA; email:
Department of Genetics, Edison Family Center for Genome Sciences and Systems Biology, and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA; email:
Annu Rev Genomics Hum Genet. 2021 Aug 31;22:81-102. doi: 10.1146/annurev-genom-120120-081921. Epub 2021 Apr 30.
The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome.
参考人类基因组序列无疑是人类遗传学和基因组学领域最重要和最广泛使用的资源。它改变了生物医学科学的开展方式，并为理解和改善人类健康带来了无价的益处。然而，常用的参考序列存在着深刻的局限性，因为在其大部分跨度内，它只代表了一个人类单体型的序列。这种单一的、单倍体的参考结构对代表人类群体中广泛的基因组多样性构成了重大障碍。在这篇综述中，我们讨论了将参考人类基因组序列现代化，以更完整地代表人类基因组多样性，即人类泛基因组。
