Carithers Latarsha J, Ardlie Kristin, Barcus Mary, Branton Philip A, Britton Angela, Buia Stephen A, Compton Carolyn C, DeLuca David S, Peter-Demchok Joanne, Gelfand Ellen T, Guan Ping, Korzeniewski Greg E, Lockhart Nicole C, Rabiner Chana A, Rao Abhi K, Robinson Karna L, Roche Nancy V, Sawyer Sherilyn J, Segrè Ayellet V, Shive Charles E, Smith Anna M, Sobin Leslie H, Undale Anita H, Valentino Kimberly M, Vaught Jim, Young Taylor R, Moore Helen M
1 Biorepositories and Biospecimen Research Branch, Cancer Diagnosis Program, National Cancer Institute (NCI), National Institutes of Health (NIH) , Bethesda, Maryland.
2 The Broad Institute of MIT and Harvard , Cambridge, Massachusetts.
Biopreserv Biobank. 2015 Oct;13(5):311-9. doi: 10.1089/bio.2015.0032.
The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was established to study the correlation between human genetic variation and tissue-specific gene expression in non-diseased individuals. A significant challenge was the collection of high-quality biospecimens for extensive genomic analyses. Here we describe how a successful infrastructure for biospecimen procurement was developed and implemented by multiple research partners to support the prospective collection, annotation, and distribution of blood, tissues, and cell lines for the GTEx project. Other research projects can follow this model and form beneficial partnerships with rapid autopsy and organ procurement organizations to collect high quality biospecimens and associated clinical data for genomic studies. Biospecimens, clinical and genomic data, and Standard Operating Procedures guiding biospecimen collection for the GTEx project are available to the research community.
由美国国立卫生研究院共同基金赞助的基因型-组织表达(GTEx)项目旨在研究非疾病个体中人类基因变异与组织特异性基因表达之间的相关性。一个重大挑战是收集高质量生物样本用于广泛的基因组分析。在此,我们描述了多个研究合作伙伴如何开发并实施一个成功的生物样本采购基础设施,以支持GTEx项目前瞻性地收集、注释和分发血液、组织及细胞系。其他研究项目可以效仿此模式,并与快速尸检和器官采购组织建立有益的合作关系,以收集用于基因组研究的高质量生物样本及相关临床数据。GTEx项目的生物样本、临床和基因组数据以及指导生物样本采集的标准操作程序可供研究界使用。