拯救生命的革命被推迟

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2024-11-22 DOI:10.1038/s41588-024-02013-0

Susan Weiss Liebman

引用次数: 0

摘要

一场家庭悲剧揭示了一个隐藏的基因突变，并将我作为遗传学家的工作转变为提高人们对基因检测至关重要性的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A lifesaving revolution delayed

A family tragedy revealed a hidden genetic mutation and transformed my work as a geneticist into a mission to increase awareness of the critical importance of genetic testing.

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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