基因组技术进步和结构变异发现的 25 年奥德赛

IF 45.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Cell Pub Date : 2024-01-29 DOI:10.1016/j.cell.2024.01.002
David Porubsky, Evan E. Eichler
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引用次数: 0

摘要

本视角重点关注过去 25 年基因组技术的进步及其对人类遗传学领域种系变异发现的影响。从芯片到短线程测序,再到现在的长线程测序,该领域见证了巨大的技术进步。每种技术都能在全基因组范围内发现不同类别的人类遗传变异。现在,我们即将首次通过单一检测方法对所有形式的变异进行全面检测。我们预测,这一转变将进一步改变我们对人类健康和生物学的理解,更重要的是,它将为我们了解基因组的动态变异过程提供新的视角。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A 25-year odyssey of genomic technology advances and structural variant discovery

This perspective focuses on advances in genome technology over the last 25 years and their impact on germline variant discovery within the field of human genetics. The field has witnessed tremendous technological advances from microarrays to short-read sequencing and now long-read sequencing. Each technology has provided genome-wide access to different classes of human genetic variation. We are now on the verge of comprehensive variant detection of all forms of variation for the first time with a single assay. We predict that this transition will further transform our understanding of human health and biology and, more importantly, provide novel insights into the dynamic mutational processes shaping our genomes.

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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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