A Review of Haplotype Assembly: Methods and Challenges
DOI:
https://doi.org/10.54097/zm3nwp41Keywords:
Haplotype assembly, Reference-guided methods, De novo assemblyAbstract
Haplotype assembly aims to partition sequencing reads according to their chromosomal origin based on variant information and to reconstruct the allelic configurations along individual chromosomes. Its core significance lies in revealing the true combinations of variants on the same chromosome, thereby enhancing the biological interpretability of genetic information. This paper presents a systematic review of haplotype assembly methods, with a focus on their underlying models and algorithmic strategies. Existing approaches are broadly categorized into reference-guided and de novo methods, and their characteristics are comparatively analyzed. Finally, future research directions are discussed, including the integration of multi-source sequencing data and the development of more robust and efficient models. Overall, this review provides a comprehensive overview of recent advances in haplotype assembly and offers valuable insights for future studies.
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