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.
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http://dx.doi.org/10.1089/bio.2015.0032 | DOI Listing |
PLoS One
December 2024
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Neuroinflammatory and neurodegenerative diseases are influenced by the complex interplay of different cell types within the brain, and understanding the proportions and dynamics of neuronal, glial, and endothelial cells is crucial for deciphering the mechanisms of these diseases. Certain risk factors, such as age and sex differences, are thought to play a significant role in the susceptibility, progression, and response to neurological disease. Therefore, investigation of age- and sex-related differences in cell type proportions is needed to elucidate the biological basis of these diseases.
View Article and Find Full Text PDFDiscov Oncol
December 2024
Department of Neurosurgery, Chongqing Emergency Medical Center, Chongqing University Central Hospital, Chongqing, China.
Background: Disulfidptosis has recently emerged as a novel form of regulated cell death (RCD). Evasion of cell death is a hallmark of cancer, and the resistance of many tumors to apoptosis-inducing therapies has heightened interest in exploring alternative RCD mechanisms.
Methods: Transcriptomic and clinical data were obtained from The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and Chinese Glioma Genome Atlas (CGGA).
Discov Oncol
December 2024
Department of Gastroenterology, Affiliated Hospital of Jiangsu University, No. 438 Jiefang Road, Zhenjiang, Jiangsu, China.
Background: Stomach adenocarcinoma (STAD) represents a significant global health burden, accounting for a considerable proportion of cancer-related mortalities, and NUAK1, a protein kinase, plays a crucial role in cellular metabolism, cell cycle regulation, migration, and tumor progression. However, its relationship with prognosis and immune infiltration in STAD has not been thoroughly investigated.
Methods: RNA sequencing data from the Cancer Genome Atlas (TCGA) and Genotypic Tissue Expression Project (GTEx) databases were employed to assess disparities in NUAK1 expression between STAD tumour and normal tissues.
Adv Sci (Weinh)
December 2024
Department of Epidemiology, School of Public Health, Key Laboratory of Public Health Safety, Ministry of Education, Fudan University, Shanghai, 200032, China.
N6-methyladenosine (mA) serves as one of the crucial RNA modifications for genes involved in cancer progression. Here, 7273 expression quantitative trait loci potentially regulating 30 m6A pathway genes are identified from the GTEx database, with 69 single nucleotide polymorphisms significantly associated with survival of non-small cell lung carcinoma (NSCLC) patients (n = 1523) from the ongoing genome-wide association study after false positive probability tests. Notably, the rs151198415 locus, situated in a potential enhancer region, demonstrated a prolonged survival effect with the C>CCACG insertion, which is validated in an independent prospective cohort (n = 237), yielding a pooled hazard ratio of 0.
View Article and Find Full Text PDFStudy Question: Can a genome-wide association study (GWAS) and transcriptome-wide association study (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women?
Summary Answer: We identified eleven genome-wide suggestive loci (strongest association signal in 19-946163-G-C [ = 2.32 × 10⁻⁷]) and seven transcriptome-wide significant genes ( [all with a < 2.50 × 10⁻⁶]) associated with circulating AMH levels in Samoan women.
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