A Journey Through Genetics to Biology.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
V. van Heyningen
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引用次数: 0

Abstract

Although my engagement with human genetics emerged gradually, and sometimes serendipitously, it has held me spellbound for decades. Without my teachers, students, postdocs, colleagues, and collaborators, I would not be writing this review of my scientific adventures. Early gene and disease mapping was a satisfying puzzle-solving exercise, but building biological insight was my main goal. The project trajectory was hugely influenced by the evolutionarily conserved nature of the implicated genes and by the pace of progress in genetic technologies. The rich detail of clinical observations, particularly in eye disease, makes humans an excellent model, especially when complemented by the use of multiple other animal species for experimental validation. The contributions of collaborators and rivals also influenced our approach. We are very fortunate to work in this era of unprecedented progress in genetics and genomics. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
从遗传学到生物学之旅
虽然我与人类遗传学的接触是逐渐开始的,有时是偶然的,但它已经让我着迷了几十年。如果没有我的老师、学生、博士后、同事和合作者,我就不会写下这篇关于我的科学冒险的评论。早期基因和疾病图谱是一个令人满意的解谜练习,但建立生物学洞察力是我的主要目标。项目轨迹受到相关基因在进化上的保守性和遗传技术进展速度的巨大影响。临床观察的丰富细节,特别是在眼病方面,使人类成为一个极好的模型,特别是当使用多种其他动物物种进行实验验证时。合作者和竞争对手的贡献也影响了我们的方法。我们非常幸运能在这个遗传学和基因组学空前进步的时代工作。预计《基因组学与人类遗传学年度评论》第23卷的最终在线出版日期为2022年10月。修订后的估计数请参阅http://www.annualreviews.org/page/journal/pubdates。
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
CiteScore
14.90
自引率
1.10%
发文量
29
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.
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