对人类基因组全面了解的探索。

IF 10.4 1区生物学 Q1 GENETICS & HEREDITY

Genome Medicine Pub Date : 2025-08-07 DOI:10.1186/s13073-025-01523-8

Ahmad Abou Tayoun, Hamad Ali, Younes Mokrab

引用次数: 0

摘要

迫切需要一个完整的人类基因组临床解释的综合路线图。我们讨论了实现这一目标的方法，包括整合来自不同的、表型良好的群体的数据，增强长读基因组组装，变体调用以及改进的预测模型和可扩展的功能分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

The quest for a complete understanding of the human genome.

查看原文本刊更多论文

The quest for a complete understanding of the human genome.

An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved predictive models and scalable functional assays.

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来源期刊

Genome Medicine GENETICS & HEREDITY-

CiteScore

20.80

自引率

0.80%

发文量

128

审稿时长

6-12 weeks

期刊介绍： Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.