Advances in haplotype phasing and genotype imputation.

IF 52 1区生物学 Q1 GENETICS & HEREDITY

Nature Reviews Genetics Pub Date : 2025-09-24 DOI:10.1038/s41576-025-00895-2

Quan Sun,Yun Li

引用次数: 0

Abstract

Haplotype phasing - to determine which genetic variants reside on the same chromosome - and genotype imputation - to infer unobserved genotypes - have become indispensable steps to improve genome coverage for genomic analyses such as genome-wide association studies. Several tools exist for haplotype phasing and genotype imputation, all of which have continuously evolved to accommodate the increasing sample sizes of genomic studies and rapidly improving sequencing technologies. To fully leverage these recent advances, researchers must deliberate several practical considerations, including tool choice, quality control filters, data privacy concerns and reference panel choice. Looking ahead, long-read sequencing technologies are poised to bring novel opportunities to this field and drive methodological development.

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单倍型分期和基因型插入的研究进展。

单倍型分期——确定哪些遗传变异驻留在同一染色体上——和基因型插入——推断未观察到的基因型——已经成为提高基因组分析（如全基因组关联研究）的基因组覆盖率必不可少的步骤。目前已有几种工具用于单倍型分期和基因型插入，所有这些工具都在不断发展，以适应不断增加的基因组研究样本量和快速改进的测序技术。为了充分利用这些最新进展，研究人员必须考虑几个实际问题，包括工具选择、质量控制过滤器、数据隐私问题和参考面板选择。展望未来，长读测序技术有望为这一领域带来新的机遇，并推动方法的发展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Nature Reviews Genetics 生物-遗传学

CiteScore

57.40

自引率

0.50%

发文量

113

审稿时长

6-12 weeks

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