The Genomics and Genetics of Rare Disease Illuminate Human Biology.

IF 7.9 2区生物学 Q1 GENETICS & HEREDITY

Annual review of genomics and human genetics Pub Date : 2026-03-04 DOI:10.1146/annurev-genom-020525-014546

James R Lupski, Richard A Gibbs

引用次数: 0

Abstract

Richard Gibbs interviews James (Jim) Lupski about his training in New York and work in Houston to elucidate the role of complex genomic rearrangements in human genetic diseases. The challenges and excitement of developing human personalized genomics and the advantages of clinical translation of genome methods for both patients and researchers are discussed.

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罕见疾病的基因组学和遗传学阐明了人类生物学。

理查德·吉布斯采访了詹姆斯（吉姆）·卢普斯基，讲述了他在纽约的训练和在休斯顿的工作，以阐明复杂的基因组重排在人类遗传疾病中的作用。讨论了发展人类个性化基因组学的挑战和兴奋，以及基因组方法的临床翻译对患者和研究人员的优势。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annual review of genomics and human genetics 生物-遗传学

CiteScore

14.90

自引率

1.10%

发文量

期刊介绍： Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.