J Syst Evol

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Toward high-quality genomes: Standards, challenges, and strategies for assembly and annotation

Kunpeng Li1, 2, Xin Yi1, 2, Yu Wang1, 2, 3, and Yuannian Jiao1, 2, 3, 4, 5*   

  1. 1. State Key Laboratory of Plant Diversity and Specialty Crops, Institute of Botany, the Chinese Academy of Sciences, Beijing, 100093 China;
    2. Key Laboratory of Systematic and Evolutionary Botany, Institute of Botany, the Chinese Academy of Sciences, Beijing, 100093 China;
    3. University of Chinese Academy of Sciences, Beijing, 100049 China;
    4. China National Botanical Garden, Beijing, 100093 China;
    5. Big Data and AI Biodiversity Conservation Research Center, Institute of Botany, the Chinese Academy of Sciences, Beijing, 100093 China
    *Author for correspondence. E‐mail: jiaoyn@ibcas.ac.cn
  • Received:2026-06-06 Revised:2026-08-08 Accepted:2026-08-10 Online:2026-09-16
  • Supported by:
    This work was supported by the National Key Research and Development Program (2021YFA0909600, Y.J.), the CAS project for Young Scientists in Basic Research (YSBR-093, Y.J.), the China National Postdoctoral Program for Innovative Talents (BX20240413 to K.L.), and the National Key Research and Development Program of China (2021YFD2201000 to X.Y.).

Abstract: Genomes provide the fundamental basis for understanding biological systems. Owing to rapid advances in sequencing technologies and assembly methods, the number of sequenced genomes has increased substantially. A high-quality genome should have high continuity, completeness, and accuracy in its assembly, along with comprehensive and precise annotations of protein-coding genes and other functional genomic elements. However, it is still difficult to fully achieve these standards due to technical limitations and the inherent genome complexity, especially for plant genomes. This review summarizes current major sequencing technologies and strategies for genome assembly and annotation, elucidates the major challenges encountered in the pursuit of truly high-quality genomes, and provides practical strategies for meeting high-quality genome standards. Finally, we highlight several emerging opportunities and promising research directions across the genomic landscape.

Key words: challenges, genome, high quality, standards, strategies