复杂性状的遗传和分子结构。

IF 45.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Cell Pub Date : 2024-02-29 DOI:10.1016/j.cell.2024.01.023
Tuuli Lappalainen, Yang I Li, Sohini Ramachandran, Alexander Gusev
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引用次数: 0

摘要

人类遗传学已成为生物学中最具活力的领域之一,对社会的影响日益广泛。在这篇综述中,我们将讨论该领域最近取得的成就、正在开展的工作以及未来面临的挑战。技术的进步、统计方法的发展以及研究工作规模的不断扩大,都让我们对当前遗传变异模式的形成过程有了更多的了解。与人类性状和疾病相关的大量基因图谱使我们能够确定其基因结构的特征。最后,通过对基因变异的分子和细胞效应的研究,人们对疾病背后的生物过程有了更深入的了解。虽然仍有许多悬而未决的问题,但随着基因数据在了解人类历史及其在改善人类健康方面的应用方面的应用越来越广泛,该领域已做好了取得突破性发现的充分准备。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic and molecular architecture of complex traits.

Human genetics has emerged as one of the most dynamic areas of biology, with a broadening societal impact. In this review, we discuss recent achievements, ongoing efforts, and future challenges in the field. Advances in technology, statistical methods, and the growing scale of research efforts have all provided many insights into the processes that have given rise to the current patterns of genetic variation. Vast maps of genetic associations with human traits and diseases have allowed characterization of their genetic architecture. Finally, studies of molecular and cellular effects of genetic variants have provided insights into biological processes underlying disease. Many outstanding questions remain, but the field is well poised for groundbreaking discoveries as it increases the use of genetic data to understand both the history of our species and its applications to improve human health.

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来源期刊
Cell
Cell 生物-生化与分子生物学
CiteScore
110.00
自引率
0.80%
发文量
396
审稿时长
2 months
期刊介绍: Cells is an international, peer-reviewed, open access journal that focuses on cell biology, molecular biology, and biophysics. It is affiliated with several societies, including the Spanish Society for Biochemistry and Molecular Biology (SEBBM), Nordic Autophagy Society (NAS), Spanish Society of Hematology and Hemotherapy (SEHH), and Society for Regenerative Medicine (Russian Federation) (RPO). The journal publishes research findings of significant importance in various areas of experimental biology, such as cell biology, molecular biology, neuroscience, immunology, virology, microbiology, cancer, human genetics, systems biology, signaling, and disease mechanisms and therapeutics. The primary criterion for considering papers is whether the results contribute to significant conceptual advances or raise thought-provoking questions and hypotheses related to interesting and important biological inquiries. In addition to primary research articles presented in four formats, Cells also features review and opinion articles in its "leading edge" section, discussing recent research advancements and topics of interest to its wide readership.
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