近日，
研究人员表示，全面绘制不同个体的人类疾病遗传基础图谱是人类遗传学领域的长期目标。全民研究计划是一项纵向队列研究，目的是在全美范围内招募至少一百万个不同的个体，以加速生物医学研究并改善人类健康。
研究人员介绍了该计划发布的245388个临床级基因组序列的基因组学数据。这一资源的独特之处在于其多样性，因为77%的参与者来自生物医学研究中历来代表性不足的社区，46%的参与者来自代表性不足的少数种族和民族。全民研究确定了10亿多个基因变异，包括2.75亿多个以前未报告的基因变异，其中390多万个具有编码后果。
利用基因组数据和纵向电子健康记录之间的联系，研究人员评估了与117种疾病相关的3724个基因变异，并发现欧洲血统的参与者和非洲血统的参与者都有很高的重复率。研究人员可以通过全民研究人员工作台（All of Us Researcher Workbench）使用独特的数据护照模式访问汇总级数据和个体级数据，从研究人员初始注册到访问数据的中位时间为29小时。研究人员预计，这个多样化的数据集将推动基因组医学的普及。
附：英文原文
Title: Genomic data in the All of Us Research Program
Author: anonymous
Issue&Volume: 2024-02-19
Abstract: Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics1,2,3,4. The All of Us Research Program is a longitudinal cohort study aiming to enrol a diverse group of at least one million individuals across the USA to accelerate biomedical research and improve human health5,6. Here we describe the programme’s genomics data release of 245,388 clinical-grade genome sequences. This resource is unique in its diversity as 77% of participants are from communities that are historically under-represented in biomedical research and 46% are individuals from under-represented racial and ethnic minorities. All of Us identified more than 1billion genetic variants, including more than 275million previously unreported genetic variants, more than 3.9million of which had coding consequences. Leveraging linkage between genomic data and the longitudinal electronic health record, we evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across both participants of European ancestry and participants of African ancestry. Summary-level data are publicly available, and individual-level data can be accessed by researchers through the All of Us Researcher Workbench using a unique data passport model with a median time from initial researcher registration to data access of 29hours. We anticipate that this diverse dataset will advance the promise of genomic medicine for all.
DOI: 10.1038/s41586-023-06957-x
Source: https://www.nature.com/articles/s41586-023-06957-x
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
