{"title":"具有单细胞分辨率的功能基因组学方法,可在遗传关联研究的基础上提供机理和生物学见解","authors":"Jens Hjerling-Leffler (Chair) , Mary-Ellen Lynall (Co-chair) , Shuyang Yao Ph.D. (Discussant)","doi":"10.1016/j.euroneuro.2024.08.023","DOIUrl":null,"url":null,"abstract":"<div><div>With few exceptions, the marked advances in knowledge about the genetic basis for psychiatric disorders have not converged on findings that can be confidently used for systematically interrogating underlying mechanisms for disease onset and progression. Functional genomics aims to provide mechanistic insights from genetic association studies and has the potential to facilitate biological insight. This series of presentations is from members of the newly started PGC working group for Functional Genomics and showcases how the use of data and methodology with single-cell resolution can further our understanding of the etiology of psychiatric disorders and the mechanism of drug action. The first talk describes an approach that allows the identification and characterization of cell type-specific and/or dynamic regulatory elements. The second talk leverages a new method to analyze cellular states and how these states relate to heritability enrichment for major depression disorder. The third talk describes a meta-analysis for optimizing sampling parameters for single-cell case/control studies which will provide much-needed rigor to an emerging field of study. The fourth talk is on the analysis of peripheral blood samples in the search for an immunological component to psychiatric disorders. Our four speakers all have expertise in single-cell methods and genetic association analysis. Each speaker has a complimentary background and methodological approach and will present the latest findings alongside the strengths and limitations of each approach and the datasets on which these analyses are based.</div></div>","PeriodicalId":12049,"journal":{"name":"European Neuropsychopharmacology","volume":null,"pages":null},"PeriodicalIF":6.1000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"FUNCTIONAL GENOMIC APPROACHES WITH SINGLE-CELL RESOLUTION PROVIDE MECHANISTIC AND BIOLOGICAL INSIGHTS BASED ON GENETIC ASSOCIATION STUDIES\",\"authors\":\"Jens Hjerling-Leffler (Chair) , Mary-Ellen Lynall (Co-chair) , Shuyang Yao Ph.D. (Discussant)\",\"doi\":\"10.1016/j.euroneuro.2024.08.023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>With few exceptions, the marked advances in knowledge about the genetic basis for psychiatric disorders have not converged on findings that can be confidently used for systematically interrogating underlying mechanisms for disease onset and progression. Functional genomics aims to provide mechanistic insights from genetic association studies and has the potential to facilitate biological insight. This series of presentations is from members of the newly started PGC working group for Functional Genomics and showcases how the use of data and methodology with single-cell resolution can further our understanding of the etiology of psychiatric disorders and the mechanism of drug action. The first talk describes an approach that allows the identification and characterization of cell type-specific and/or dynamic regulatory elements. The second talk leverages a new method to analyze cellular states and how these states relate to heritability enrichment for major depression disorder. The third talk describes a meta-analysis for optimizing sampling parameters for single-cell case/control studies which will provide much-needed rigor to an emerging field of study. The fourth talk is on the analysis of peripheral blood samples in the search for an immunological component to psychiatric disorders. Our four speakers all have expertise in single-cell methods and genetic association analysis. Each speaker has a complimentary background and methodological approach and will present the latest findings alongside the strengths and limitations of each approach and the datasets on which these analyses are based.</div></div>\",\"PeriodicalId\":12049,\"journal\":{\"name\":\"European Neuropsychopharmacology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.1000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Neuropsychopharmacology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0924977X24002220\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Neuropsychopharmacology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0924977X24002220","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
FUNCTIONAL GENOMIC APPROACHES WITH SINGLE-CELL RESOLUTION PROVIDE MECHANISTIC AND BIOLOGICAL INSIGHTS BASED ON GENETIC ASSOCIATION STUDIES
With few exceptions, the marked advances in knowledge about the genetic basis for psychiatric disorders have not converged on findings that can be confidently used for systematically interrogating underlying mechanisms for disease onset and progression. Functional genomics aims to provide mechanistic insights from genetic association studies and has the potential to facilitate biological insight. This series of presentations is from members of the newly started PGC working group for Functional Genomics and showcases how the use of data and methodology with single-cell resolution can further our understanding of the etiology of psychiatric disorders and the mechanism of drug action. The first talk describes an approach that allows the identification and characterization of cell type-specific and/or dynamic regulatory elements. The second talk leverages a new method to analyze cellular states and how these states relate to heritability enrichment for major depression disorder. The third talk describes a meta-analysis for optimizing sampling parameters for single-cell case/control studies which will provide much-needed rigor to an emerging field of study. The fourth talk is on the analysis of peripheral blood samples in the search for an immunological component to psychiatric disorders. Our four speakers all have expertise in single-cell methods and genetic association analysis. Each speaker has a complimentary background and methodological approach and will present the latest findings alongside the strengths and limitations of each approach and the datasets on which these analyses are based.
期刊介绍:
European Neuropsychopharmacology is the official publication of the European College of Neuropsychopharmacology (ECNP). In accordance with the mission of the College, the journal focuses on clinical and basic science contributions that advance our understanding of brain function and human behaviour and enable translation into improved treatments and enhanced public health impact in psychiatry. Recent years have been characterized by exciting advances in basic knowledge and available experimental techniques in neuroscience and genomics. However, clinical translation of these findings has not been as rapid. The journal aims to narrow this gap by promoting findings that are expected to have a major impact on both our understanding of the biological bases of mental disorders and the development and improvement of treatments, ideally paving the way for prevention and recovery.