GWAS记分卡使用编码和调节变异体对肾脏基因进行优先排序

IF 28.6 1区医学 Q1 UROLOGY & NEPHROLOGY

Nature Reviews Nephrology Pub Date : 2025-03-20 DOI:10.1038/s41581-025-00952-3

Matthias Wuttke, Cristian Pattaro

引用次数: 0

摘要

基于来自220万个体的全基因组关联研究数据，功能优先级记分卡将经典组学与肾脏组织和特定细胞类型中的等位基因特异性基因表达、染色质可及性和基因调控回路整合在一起。该方法优先排序了601个肾脏功能相关基因，包括与小鼠和人类肾病相关的基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

GWAS scorecard prioritizes kidney genes using coding and regulatory variants

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GWAS scorecard prioritizes kidney genes using coding and regulatory variants

Based on genome-wide association study data from 2.2 million individuals, a functional prioritization scorecard integrates classical omics with allele-specific gene expression, chromatin accessibility and gene regulatory circuits in kidney tissues and specific cell types. This approach prioritized 601 kidney function-related genes, including genes associated with nephropathy in mice and humans.

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来源期刊

Nature Reviews Nephrology 医学-泌尿学与肾脏学

CiteScore

39.00

自引率

1.20%

发文量

127

审稿时长

6-12 weeks

期刊介绍： Nature Reviews Nephrology aims to be the premier source of reviews and commentaries for the scientific communities it serves. It strives to publish authoritative, accessible articles. Articles are enhanced with clearly understandable figures, tables, and other display items. Nature Reviews Nephrology publishes Research Highlights, News & Views, Comments, Reviews, Perspectives, and Consensus Statements. The content is relevant to nephrologists and basic science researchers. The broad scope of the journal ensures that the work reaches the widest possible audience.