ArticleScientific reports2022
Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases.
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Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15citing papers in PubMed, 1 pooled it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation.Nature communications · 2025Pooled it
- Prognostic lncRNAs and their functional pathways in gastric cancer revealed by bioinformatics and experimental validation.Molecular biology reports · 2026Article
- The Blood RNA Stability Atlas: defining temporal structure and trait-state programs in the human whole-blood transcriptome.bioRxiv : the preprint server for biology · 2026Article
- Mitochondrial genetic variation across tissues of the human body.Nucleic acids research · 2026Article
- A mammalian genomic signature shaped by single nucleotide variants regulates transcriptome integrity and diversity.Genome biology · 2026Article
- Precision livestock farming and integrated molecular profiling reveal heat-stress resilience signatures in Marchigiana cattle.Frontiers in veterinary science · 2026Article
- Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS).BMC medical genomics · 2025Article
- Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.Nature communications · 2025Article
- Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants.medRxiv : the preprint server for health sciences · 2025Article
- Molecular genotyping of multi-system rare blood types in foreign blood donors based on DNA sequencing and its clinical significance.Open medicine (Warsaw, Poland) · 2025Article
- Expression quantitative trait locus mapping of extracellular microRNAs in human plasma.iScience · 2024Article
- Fine-mapping causal tissues and genes at disease-associated loci.medRxiv : the preprint server for health sciences · 2024Article
- Genome-Wide Interaction Analysis With DASH Diet Score Identified Novel Loci for Systolic Blood Pressure.Hypertension (Dallas, Tex. : 1979) · 2024Article
- Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.American journal of human genetics · 2023Article
- Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.The Journal of clinical investigation · 2023Article
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Authors and funding
20 authors at 7 institutions in 1 country.
Chunyu Liu *Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA. liuc@bu.edu.
Roby Joehanes *Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. roby.joehanes@nih.gov.
Jiantao MaNutrition Epidemiology and Data Science, Friedman School of Nutrition Science and Policy, Tufts University, Boston, MA, USA.
Yuxuan WangDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Xianbang SunDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Amena KeshawarzPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Meera SoodaPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Tianxiao HuanPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Shih-Jen HwangPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Helena BuiPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Brandon TejadaPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Peter J MunsonPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Cumhur Y DemirkaleCritical Care Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Nancy L Heard-CostaFramingham Heart Study, Framingham, MA, USA.
Achilleas N PitsillidesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Gina M PelosoDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Michael FeoloNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Nataliya SharopovaNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Ramachandran S VasanFramingham Heart Study, Framingham, MA, USA.
Daniel Levy *Framingham Heart Study, Framingham, MA, USA. levyd@nih.gov.
Boston University · USNational Heart Lung and Blood Institute · USNational Institutes of Health · USBoston Public Schools · USNational Center for Biotechnology Information · USNational Institutes of Health Clinical Center · USTufts University · US
Funding
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · 2019 to 2024
$29.8MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MTrans-omic Analysis of Alcohol Consumption and its Relation to Cardiovascular DiseaseR01AA028263 · NIAAA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU, MA, JIANTAO · 2021 to 2025
$2.6MDietary factors, biomarkers, metabolic pathways related to non-alcoholic fatty liver diseaseK22HL135075 · NHLBI · TUFTS UNIVERSITY BOSTON · PI MA, JIANTAO · 2019 to 2021
$747kNHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201500001INHLBI NIH HHS K22 HL135075NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NIAAA NIH HHS R01 AA028263
Abstract
To create a scientific resource of expression quantitative trail loci (eQTL), we conducted a genome-wide association study (GWAS) using genotypes obtained from whole genome sequencing (WGS) of DNA and gene expression levels from RNA sequencing (RNA-seq) of whole blood in 2622 participants in Framingham Heart Study. We identified 6,778,286 cis-eQTL variant-gene transcript (eGene) pairs at p < 5 × 10
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyQuantitative Trait LociDNAGene ExpressionHumansSequence Analysis, RNADNA
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