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Super RNA Pol II domains enhance minor ZGA through 3D interaction to ensure the integrity of major transcriptional waves in late-ZGA mammals. 超级RNA Pol II结构域通过3D相互作用增强小ZGA,以确保晚期ZGA哺乳动物主要转录波的完整性。
IF 11.1
Cell genomics Pub Date : 2025-06-11 Epub Date: 2025-05-01 DOI: 10.1016/j.xgen.2025.100856
Jingcheng Zhang, Hengkuan Li, Linmi Li, Jie Wu, Linjie Song, Xin Liu, Zhangyuan Pan, Chuan Zhou, Wenying Li, Zixiao Liu, Mei Jiao, Mingyang Hu, Zhenyu Dong, Hexu Zhang, Binqiang Shi, Yong Wang, Debao Wang, Benjamin Carter, Shuhong Zhao, Gang Ren, Yunxia Zhao, Yong Zhang
{"title":"Super RNA Pol II domains enhance minor ZGA through 3D interaction to ensure the integrity of major transcriptional waves in late-ZGA mammals.","authors":"Jingcheng Zhang, Hengkuan Li, Linmi Li, Jie Wu, Linjie Song, Xin Liu, Zhangyuan Pan, Chuan Zhou, Wenying Li, Zixiao Liu, Mei Jiao, Mingyang Hu, Zhenyu Dong, Hexu Zhang, Binqiang Shi, Yong Wang, Debao Wang, Benjamin Carter, Shuhong Zhao, Gang Ren, Yunxia Zhao, Yong Zhang","doi":"10.1016/j.xgen.2025.100856","DOIUrl":"10.1016/j.xgen.2025.100856","url":null,"abstract":"<p><p>Zygotic genome activation (ZGA) occurs at distinct stages across mammals, with mice initiating ZGA at the 2-cell stage and bovines and humans activating the process in the 4- to 8-cell stages. RNA polymerase II (RNA Pol II) gradually initiates ZGA in mice, but regulation in late-ZGA species remains unclear. Here, RNA Pol II profiling in bovine embryos identified strong intergenic clusters that boost minor ZGA gene expression via chromatin interactions and are named super RNA Pol II domains (SPDs). CRISPRi perturbation of SPDs in bovine embryos decreases the expression of minor ZGA genes, whereas the knockdown of these genes disrupts major ZGA and embryogenesis. Rapid enhancement of minor ZGA genes also occurs in human embryos. Alternatively, mouse and porcine oocytes precociously express these minor ZGA genes without SPDs. Thus, SPDs appear to be an adaptation in bovine embryos, promoting minor ZGA gene expression to comparable levels as early-ZGA species, illuminating species-specific regulation of ZGA timing.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100856"},"PeriodicalIF":11.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12230243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity. 生物库规模遗传学和血浆蛋白质组学的整合揭示了哮喘风险和异质性因果过程的证据。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-04-04 DOI: 10.1016/j.xgen.2025.100840
Lauren J Donoghue, Christian Benner, Diana Chang, Flaviyan Jerome Irudayanathan, Rion K Pendergrass, Brian L Yaspan, Anubha Mahajan, Mark I McCarthy
{"title":"Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity.","authors":"Lauren J Donoghue, Christian Benner, Diana Chang, Flaviyan Jerome Irudayanathan, Rion K Pendergrass, Brian L Yaspan, Anubha Mahajan, Mark I McCarthy","doi":"10.1016/j.xgen.2025.100840","DOIUrl":"10.1016/j.xgen.2025.100840","url":null,"abstract":"<p><p>Hundreds of genetic associations for asthma have been identified, yet translating these findings into mechanistic insights remains challenging. We leveraged plasma proteomics from the UK Biobank Pharma Proteomics Project (UKB-PPP) to identify biomarkers and effectors of asthma risk or heterogeneity using genetic causal inference approaches. We identified 609 proteins associated with asthma status (269 proteins after controlling for body mass index [BMI] and smoking). Analysis of genetically predicted protein levels identified 70 proteins with putative causal roles in asthma risk, including known drug targets and proteins without prior genetic evidence in asthma (e.g., GCHFR, TDRKH, and CLEC7A). The genetic architecture of causally associated proteins provided evidence for a Toll-like receptor (TLR)1-interleukin (IL)-27 asthma axis. Lastly, we identified evidence of causal relationships between proteins and heterogeneous aspects of asthma biology, including between TSPAN8 and neutrophil counts. These findings illustrate that integrating biobank-scale genetics and plasma proteomics can provide a framework to identify therapeutic targets and mechanisms underlying disease risk and heterogeneity.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100840"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trans-eQTL hotspots shape complex traits by modulating cellular states. Trans-eQTL热点通过调节细胞状态塑造复杂性状。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-05-05 DOI: 10.1016/j.xgen.2025.100873
Kaushik Renganaath, Frank Wolfgang Albert
{"title":"Trans-eQTL hotspots shape complex traits by modulating cellular states.","authors":"Kaushik Renganaath, Frank Wolfgang Albert","doi":"10.1016/j.xgen.2025.100873","DOIUrl":"10.1016/j.xgen.2025.100873","url":null,"abstract":"<p><p>Regulatory genetic variation shapes gene expression, providing an important mechanism connecting DNA variation and complex traits. The causal relationships between gene expression and complex traits remain poorly understood. Here, we integrated transcriptomes and 46 genetically complex growth traits in a large cross between two strains of the yeast Saccharomyces cerevisiae. We discovered thousands of genetic correlations between gene expression and growth, suggesting potential functional connections. Local regulatory variation was a minor source of these genetic correlations. Instead, genetic correlations tended to arise from multiple independent trans-acting regulatory loci. Trans-acting hotspots that affect the expression of numerous genes accounted for particularly large fractions of genetic growth variation and of genetic correlations between gene expression and growth. Genes with genetic correlations were enriched for similar biological processes across traits but with heterogeneous direction of effect. Our results reveal how trans-acting regulatory hotspots shape complex traits by altering cellular states.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100873"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ribonuclease activity undermines immune sensing of naked extracellular RNA. 核糖核酸酶活性破坏裸细胞外RNA的免疫感知。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-05-06 DOI: 10.1016/j.xgen.2025.100874
Mauricio Castellano, Valentina Blanco, Marco Li Calzi, Bruno Costa, Kenneth Witwer, Marcelo Hill, Alfonso Cayota, Mercedes Segovia, Juan Pablo Tosar
{"title":"Ribonuclease activity undermines immune sensing of naked extracellular RNA.","authors":"Mauricio Castellano, Valentina Blanco, Marco Li Calzi, Bruno Costa, Kenneth Witwer, Marcelo Hill, Alfonso Cayota, Mercedes Segovia, Juan Pablo Tosar","doi":"10.1016/j.xgen.2025.100874","DOIUrl":"10.1016/j.xgen.2025.100874","url":null,"abstract":"<p><p>Cell membranes are thought of as barriers to extracellular RNA (exRNA) uptake. While naked exRNAs can be spontaneously internalized by certain cells, functional cytosolic delivery has been rarely observed. Here, we show that extracellular ribonucleases (RNases)-primarily from cell culture supplements-have obscured the study of exRNA functionality. When ribonuclease inhibitor (RI) is added to cell cultures, naked exRNAs can trigger pro-inflammatory responses in dendritic cells and macrophages, largely via endosomal Toll-like receptors (TLRs). Moreover, naked exRNAs can escape endosomes, engaging cytosolic RNA sensors. In addition, naked extracellular mRNAs can be spontaneously internalized and translated by various cell types in an RI-dependent manner. In vivo, RI co-injection amplifies naked-RNA-induced activation of splenic lymphocytes and myeloid leukocytes. Furthermore, naked RNA is inherently pro-inflammatory in RNase-poor compartments like the peritoneal cavity. These findings demonstrate that naked RNA is bioactive without requiring vesicular encapsulation, making a case for nonvesicular-exRNA-mediated intercellular communication.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100874"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits. 通过高维性状的多变量潜在因子分析提高遗传发现和精细定位分辨率。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-04-11 DOI: 10.1016/j.xgen.2025.100847
Feng Zhou, William J Astle, Adam S Butterworth, Jennifer L Asimit
{"title":"Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits.","authors":"Feng Zhou, William J Astle, Adam S Butterworth, Jennifer L Asimit","doi":"10.1016/j.xgen.2025.100847","DOIUrl":"10.1016/j.xgen.2025.100847","url":null,"abstract":"<p><p>Genome-wide association studies (GWASs) of high-dimensional traits, such as blood cell or metabolic traits, often use univariate approaches, ignoring trait relationships. Biological mechanisms generating variation in high-dimensional traits can be captured parsimoniously through a GWAS of latent factors. Here, we introduce flashfmZero, a zero-correlation latent-factor-based multi-trait fine-mapping approach. In an application to 25 latent factors derived from 99 blood cell traits in the INTERVAL cohort, we show that latent factor GWASs enable the detection of signals generating sub-threshold associations with several blood cell traits. The 99% credible sets (CS99) from flashfmZero were equal to or smaller in size than those from univariate fine-mapping of blood cell traits in 87% of our comparisons. In all cases univariate latent factor CS99 contained those from flashfmZero. Our latent factor approaches can be applied to GWAS summary statistics and will enhance power for the discovery and fine-mapping of associations for many traits.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100847"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Enhanced interpretation of immune cell phenotype and function through a rhesus macaque single-cell atlas. 通过恒河猴单细胞图谱增强免疫细胞表型和功能的解释。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-04-14 DOI: 10.1016/j.xgen.2025.100849
Eisa Mahyari, Gregory J Boggy, G W McElfresh, Maanasa Kaza, Sebastian Benjamin, Benjamin Varco-Merth, Sohita Ojha, Shana Feltham, William Goodwin, Candice Nkoy, Derick Duell, Andrea Selseth, Tyler Bennett, Aaron Barber-Axthelm, Jeremy V Smedley, Caralyn S Labriola, Michael K Axthelm, R Keith Reeves, Afam A Okoye, Scott G Hansen, Louis J Picker, Benjamin N Bimber
{"title":"Enhanced interpretation of immune cell phenotype and function through a rhesus macaque single-cell atlas.","authors":"Eisa Mahyari, Gregory J Boggy, G W McElfresh, Maanasa Kaza, Sebastian Benjamin, Benjamin Varco-Merth, Sohita Ojha, Shana Feltham, William Goodwin, Candice Nkoy, Derick Duell, Andrea Selseth, Tyler Bennett, Aaron Barber-Axthelm, Jeremy V Smedley, Caralyn S Labriola, Michael K Axthelm, R Keith Reeves, Afam A Okoye, Scott G Hansen, Louis J Picker, Benjamin N Bimber","doi":"10.1016/j.xgen.2025.100849","DOIUrl":"10.1016/j.xgen.2025.100849","url":null,"abstract":"<p><p>Single-cell RNA sequencing (scRNA-seq) allows cell classification using genome-wide transcriptional state; however, high-dimensional transcriptomic profiles, and the unsupervised analyses employed to interpret them, provide a systematically different view of biology than well-established functional/lineage definitions of immunocytes. Understanding these differences and limits is essential for accurate interpretation of these rich data. We present the Rhesus Immune Reference Atlas (RIRA), the first immune-focused macaque single-cell multi-tissue atlas. We contrasted transcriptional profiles against immune lineages, using surface protein and marker genes as ground truth. While the pattern of clustering can align with cell type, this is not always true. Especially within T and natural killer (NK) cells, many functionally distinct subsets lack defining markers, and strong shared expression programs, such as cytotoxicity, result in systematic intermingling by unsupervised clustering. We identified gene programs with high discriminatory/diagnostic value, including multi-gene signatures that model T/NK cell maturation. Directly measuring these diagnostic programs complements unsupervised analyses.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100849"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework. scPrediXcan将深度学习方法和单细胞数据集成到细胞类型特异性转录组关联研究框架中。
IF 11.1
Cell genomics Pub Date : 2025-05-14 DOI: 10.1016/j.xgen.2025.100875
Yichao Zhou, Temidayo Adeluwa, Lisha Zhu, Sofia Salazar-Magaña, Sarah Sumner, Hyunki Kim, Saideep Gona, Festus Nyasimi, Rohit Kulkarni, Joseph E Powell, Ravi Madduri, Boxiang Liu, Mengjie Chen, Hae Kyung Im
{"title":"scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework.","authors":"Yichao Zhou, Temidayo Adeluwa, Lisha Zhu, Sofia Salazar-Magaña, Sarah Sumner, Hyunki Kim, Saideep Gona, Festus Nyasimi, Rohit Kulkarni, Joseph E Powell, Ravi Madduri, Boxiang Liu, Mengjie Chen, Hae Kyung Im","doi":"10.1016/j.xgen.2025.100875","DOIUrl":"10.1016/j.xgen.2025.100875","url":null,"abstract":"<p><p>Transcriptome-wide association studies (TWASs) help identify disease-causing genes but often fail to pinpoint disease mechanisms at the cellular level because of the limited sample sizes and sparsity of cell-type-specific expression data. Here, we propose scPrediXcan, which integrates state-of-the-art deep learning approaches that predict epigenetic features from DNA sequences with the canonical TWAS framework. Our prediction approach, ctPred, predicts cell-type-specific expression with high accuracy and captures complex gene-regulatory grammar that linear models overlook. Applied to type 2 diabetes (T2D) and systemic lupus erythematosus (SLE), scPrediXcan outperformed the canonical TWAS framework by identifying more candidate causal genes, explaining more genome-wide association study (GWAS) loci and providing insights into the cellular specificity of TWAS hits. Overall, our results demonstrate that scPrediXcan represents a significant advance, promising to deepen our understanding of the cellular mechanisms underlying complex diseases.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":"5 5","pages":"100875"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide allele-specific expression in multi-tissue samples from healthy male baboons reveals the transcriptional complexity of mammals. 健康雄性狒狒多组织样本的全基因组等位基因特异性表达揭示了哺乳动物转录的复杂性。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-04-04 DOI: 10.1016/j.xgen.2025.100823
Ramesh Ramasamy, Muthuswamy Raveendran, R Alan Harris, Hiep D Le, Ludovic S Mure, Giorgia Benegiamo, Ouria Dkhissi-Benyahya, Howard Cooper, Jeffrey Rogers, Satchidananda Panda
{"title":"Genome-wide allele-specific expression in multi-tissue samples from healthy male baboons reveals the transcriptional complexity of mammals.","authors":"Ramesh Ramasamy, Muthuswamy Raveendran, R Alan Harris, Hiep D Le, Ludovic S Mure, Giorgia Benegiamo, Ouria Dkhissi-Benyahya, Howard Cooper, Jeffrey Rogers, Satchidananda Panda","doi":"10.1016/j.xgen.2025.100823","DOIUrl":"10.1016/j.xgen.2025.100823","url":null,"abstract":"<p><p>Allele-specific expression (ASE) is pivotal in understanding the genetic underpinnings of phenotypic variation within species, differences in disease susceptibility, and responses to environmental factors. We processed 11 different tissue types collected from 12 age-matched healthy olive baboons (Papio anubis) for genome-wide ASE analysis. By sequencing their genomes at a minimum depth of 30×, we identified over 16 million single-nucleotide variants (SNVs). We also generated long-read sequencing data, enabling the phasing of all variants present within the coding regions of 96.5% of assayable protein-coding genes as a single haplotype block. Given the extensive heterozygosity of baboons relative to humans, we could quantify ASE across 72% of the total annotated protein-coding gene set. We identified genes that exhibit ASE and affect specific tissues and genotypes. We discovered ASE SNVs that also exist in human populations with identical alleles and that are designated as pathogenic by both the PrimateAI-3D and AlphaMissense models.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100823"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders. 脂肪组织的变异-功能方法:对心脏代谢紊乱的见解。
IF 11.1
Cell genomics Pub Date : 2025-05-14 Epub Date: 2025-04-03 DOI: 10.1016/j.xgen.2025.100844
Sophia Metz, Jonathan Robert Belanich, Melina Claussnitzer, Tuomas Oskari Kilpeläinen
{"title":"Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders.","authors":"Sophia Metz, Jonathan Robert Belanich, Melina Claussnitzer, Tuomas Oskari Kilpeläinen","doi":"10.1016/j.xgen.2025.100844","DOIUrl":"10.1016/j.xgen.2025.100844","url":null,"abstract":"<p><p>Genome-wide association studies (GWASs) have identified thousands of genetic loci associated with cardiometabolic disorders. However, the functional interpretation of these loci remains a daunting challenge. This is particularly true for adipose tissue, a critical organ in systemic metabolism and the pathogenesis of various cardiometabolic diseases. We discuss how variant-to-function (V2F) approaches are used to elucidate the mechanisms by which GWAS loci increase the risk of cardiometabolic disorders by directly influencing adipose tissue. We outline GWAS traits most likely to harbor adipose-related variants and summarize tools to pinpoint the putative causal variants, genes, and cell types for the associated loci. We explain how large-scale perturbation experiments, coupled with imaging and multi-omics, can be used to screen variants' effects on cellular phenotypes and how these phenotypes can be tied to physiological mechanisms. Lastly, we discuss the challenges and opportunities that lie ahead for V2F research and propose a roadmap for future studies.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":" ","pages":"100844"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143332/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ethics choices during the Human Genome Project reflected their policy world, not ours. 人类基因组计划中的伦理选择反映了他们的政策世界,而不是我们的。
IF 11.1
Cell genomics Pub Date : 2025-05-14 DOI: 10.1016/j.xgen.2025.100841
Jonathan E LoTempio, Christopher R Donohue, Jonathan D Moreno, Robert Cook-Deegan
{"title":"Ethics choices during the Human Genome Project reflected their policy world, not ours.","authors":"Jonathan E LoTempio, Christopher R Donohue, Jonathan D Moreno, Robert Cook-Deegan","doi":"10.1016/j.xgen.2025.100841","DOIUrl":"10.1016/j.xgen.2025.100841","url":null,"abstract":"<p><p>Since human genomic data produced in the 1990s are still a significant part of the reference genome, decades-old decisions pertinent to the creation of these data persist. Here, we discuss how historical documents illustrate the 1990s policy and legal environment and how they affected ethical choices in the Human Genome Project (HGP). These documents inform current controversies about informed consent and how IRBs review similar protocols today. Finally, we discuss how this informs active work in large reference pangenome efforts.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":"5 5","pages":"100841"},"PeriodicalIF":11.1,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143320/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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