New York Genome Center, New York, NY, USA; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.
Section of Genetic Medicine, University of Chicago, Chicago, IL, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Cell. 2024 Feb 29;187(5):1059-1075. doi: 10.1016/j.cell.2024.01.023.
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.
人类遗传学已成为生物学中最具活力的领域之一,对社会的影响也日益广泛。在这篇综述中,我们讨论了该领域的最新成果、正在进行的努力和未来的挑战。技术、统计方法的进步以及研究工作规模的不断扩大,都为理解导致当前遗传变异模式的过程提供了许多新的见解。与人类特征和疾病相关的遗传关联的大型图谱,使我们能够对其遗传结构进行描述。最后,对遗传变异的分子和细胞效应的研究,为疾病的生物学过程提供了新的见解。虽然还有许多悬而未决的问题,但随着该领域越来越多地利用遗传数据来了解我们物种的历史及其在改善人类健康方面的应用,该领域有望取得突破性发现。