拉丁美洲多样性遗传学项目:对美洲混血群体的人口遗传学和关联研究的见解。

IF 11.1 Q1 CELL BIOLOGY Cell genomics Pub Date : 2024-11-13 Epub Date: 2024-10-31 DOI:10.1016/j.xgen.2024.100692
Victor Borda, Douglas P Loesch, Bing Guo, Roland Laboulaye, Diego Veliz-Otani, Jennifer N French, Thiago Peixoto Leal, Stephanie M Gogarten, Sunday Ikpe, Mateus H Gouveia, Marla Mendes, Gonçalo R Abecasis, Isabela Alvim, Carlos E Arboleda-Bustos, Gonzalo Arboleda, Humberto Arboleda, Mauricio L Barreto, Lucas Barwick, Marcos A Bezzera, John Blangero, Vanderci Borges, Omar Caceres, Jianwen Cai, Pedro Chana-Cuevas, Zhanghua Chen, Brian Custer, Michael Dean, Carla Dinardo, Igor Domingos, Ravindranath Duggirala, Elena Dieguez, Willian Fernandez, Henrique B Ferraz, Frank Gilliland, Heinner Guio, Bernardo Horta, Joanne E Curran, Jill M Johnsen, Robert C Kaplan, Shannon Kelly, Eimear E Kenny, Barbara A Konkle, Charles Kooperberg, Andres Lescano, M Fernanda Lima-Costa, Ruth J F Loos, Ani Manichaikul, Deborah A Meyers, Michel S Naslavsky, Deborah A Nickerson, Kari E North, Carlos Padilla, Michael Preuss, Victor Raggio, Alexander P Reiner, Stephen S Rich, Carlos R Rieder, Michiel Rienstra, Jerome I Rotter, Tatjana Rundek, Ralph L Sacco, Cesar Sanchez, Vijay G Sankaran, Bruno Lopes Santos-Lobato, Artur Francisco Schumacher-Schuh, Marilia O Scliar, Edwin K Silverman, Tamar Sofer, Jessica Lasky-Su, Vitor Tumas, Scott T Weiss, Ignacio F Mata, Ryan D Hernandez, Eduardo Tarazona-Santos, Timothy D O'Connor
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引用次数: 0

摘要

拉美人在基因研究中的代表性不足,加大了个性化基因组医疗的差距。尽管有成千上万拉美人的基因数据,但要获得同意或访问这些数据并通过官僚障碍仍是一项挑战。为了解决这个问题,我们推出了拉美多样性遗传学(GLAD)项目,汇编了代表 46 个地理区域的 39 项研究中 53738 名拉美人的全基因组信息。通过 GLAD,我们确定了整个美洲异质的祖先组成和近期的基因流动。此外,我们还开发了 GLAD-match(一种基于模拟退火的算法),用于将外部样本的遗传背景与我们的数据库相匹配,在不转移个体水平基因型的情况下共享汇总统计数据(即等位基因和单倍型频率)。最后,我们展示了 GLAD 作为在混杂情况下评估统计遗传软件的重要资源的潜力。通过提供这一资源,我们促进了拉丁美洲的基因组研究,并为更多人实现个性化医疗的承诺做出了贡献。
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Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.

Latin Americans are underrepresented in genetic studies, increasing disparities in personalized genomic medicine. Despite available genetic data from thousands of Latin Americans, accessing and navigating the bureaucratic hurdles for consent or access remains challenging. To address this, we introduce the Genetics of Latin American Diversity (GLAD) Project, compiling genome-wide information from 53,738 Latin Americans across 39 studies representing 46 geographical regions. Through GLAD, we identified heterogeneous ancestry composition and recent gene flow across the Americas. Additionally, we developed GLAD-match, a simulated annealing-based algorithm, to match the genetic background of external samples to our database, sharing summary statistics (i.e., allele and haplotype frequencies) without transferring individual-level genotypes. Finally, we demonstrate the potential of GLAD as a critical resource for evaluating statistical genetic software in the presence of admixture. By providing this resource, we promote genomic research in Latin Americans and contribute to the promises of personalized medicine to more people.

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