Advances in haplotype phasing and genotype imputation
单倍型定相和基因型插补的进展
- 关键词：
- 来源：
- Nature Reviews Genetics
- 类型：
- 学术文献
- 语种：
- 英语
- 原文发布日期：
- 2025-09-24
- 摘要：
- 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.
- 所属专题：
- 177
