染色体级单倍型解析泛基因组学

Chromosome-scale haplotype-resolved pangenomics.

作者信息

Garg Shilpa, Balboa Renzo, Kuja Josiah

机构信息

Department of Biology, University of Copenhagen, Copenhagen, Denmark.

出版信息

Trends Genet. 2022 Nov;38(11):1103-1107. doi: 10.1016/j.tig.2022.06.011. Epub 2022 Jul 8.

DOI:10.1016/j.tig.2022.06.011

PMID:35817620

Abstract

Complete pangenomics is crucial for understanding genetic diversity and evolution across the tree of life. Chromosome-scale, haplotype-resolved pangenomics allows complex structural variations, long-range interactions, and associated functions to be discerned in species populations. We explore the need for high-resolution pangenomes, discuss computational strategies for their development, and describe applications in biodiversity and human health.

摘要

完整的泛基因组学对于理解生命之树上的遗传多样性和进化至关重要。染色体水平、单倍型解析的泛基因组学能够在物种群体中识别复杂的结构变异、长程相互作用及相关功能。我们探讨了对高分辨率泛基因组的需求，讨论了其开发的计算策略，并描述了在生物多样性和人类健康方面的应用。