Middle Eastern genomes: new references for disease and population diversity studies

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2025-05-05 DOI:10.1038/s41588-025-02174-6

引用次数: 0

Abstract

High-quality, near-complete and phased genomes were assembled from diverse Middle Eastern families, enabling refined autozygosity mapping and enhanced discovery of rare disease-causing variants. The genomes serve as valuable references for detecting population-specific genetic variation, paving the way for improved genetic diagnosis and a deeper understanding of human population diversity.

Abstract Image

查看原文本刊更多论文

中东基因组：疾病和人口多样性研究的新参考文献

来自不同中东家庭的高质量、接近完整和分阶段的基因组被组装起来，从而实现了精确的自合子定位，并加强了对罕见致病变异的发现。这些基因组为检测种群特异性遗传变异提供了有价值的参考，为改进遗传诊断和更深入地了解人类种群多样性铺平了道路。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution