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An introduction to polygenic scores - methodological basics and recent advances. 介绍多基因评分-方法基础和最新进展。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3009
Hannah Klinkhammer, Andreas Mayr, Carlo Maj
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引用次数: 0
Polygenic risk scores in clinical applications - opportunities and challenges. 多基因风险评分在临床应用中的机遇与挑战。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3016
Johannes Schumacher, Markus M Nöthen, Stefanie Heilmann-Heimbach
{"title":"Polygenic risk scores in clinical applications - opportunities and challenges.","authors":"Johannes Schumacher, Markus M Nöthen, Stefanie Heilmann-Heimbach","doi":"10.1515/medgen-2026-3016","DOIUrl":"10.1515/medgen-2026-3016","url":null,"abstract":"<p><p>Polygenic risk scores (PRS) are increasingly transitioning from research tools into instruments with direct clinical relevance. This review addresses both opportunities and challenges of PRS across disease contexts. Key applications include risk stratification in multifactorial and monogenic diseases, diagnostic support in etiologically heterogeneous disorders, and pharmacogenomic stratification. These are accompanied by substantial challenges, including limited transferability across diverse populations, insufficient methodological standardization, and barriers to effective risk communication. PRS hold considerable potential to contribute to a more individualized, predictive, and preventive medicine, provided that scientific rigor and responsibility guide their clinical translation.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"169-176"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tagungsbericht der Tagungspräsidentin Prof. Dr. med. Juliane Winkelmann. 由医学博士教授主持。碰见的Juliane .
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3002
{"title":"Tagungsbericht der Tagungspräsidentin Prof. Dr. med. Juliane Winkelmann.","authors":"","doi":"10.1515/medgen-2026-3002","DOIUrl":"10.1515/medgen-2026-3002","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"257-258"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Medizinisch-Genetische Labordiagnostik, M.Sc. 医学遗传学实验室，理学硕士。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3020
{"title":"Medizinisch-Genetische Labordiagnostik, M.Sc.","authors":"","doi":"10.1515/medgen-2026-3020","DOIUrl":"10.1515/medgen-2026-3020","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"245"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
50 Jahre (und mehr) Humangenetik/Medizinische Genetik in Berlin. 50年的人类遗传学和医学遗传学在柏林。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3001
Stefan Mundlos, Malte Spielmann, Karl Sperling, Regine Witkowski
{"title":"50 Jahre (und mehr) Humangenetik/Medizinische Genetik in Berlin.","authors":"Stefan Mundlos, Malte Spielmann, Karl Sperling, Regine Witkowski","doi":"10.1515/medgen-2026-3001","DOIUrl":"10.1515/medgen-2026-3001","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"247-251"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Medizinisch-genetische Patient*innenversorgung in den sechs Zentren für Medizinische Genetik. 医学-遗传学患者*在六个医学遗传学中心的内部护理。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3017
Sarah Verheyen, Johannes Zschocke, Dominik Westphal
{"title":"Medizinisch-genetische Patient*innenversorgung in den sechs Zentren für Medizinische Genetik.","authors":"Sarah Verheyen, Johannes Zschocke, Dominik Westphal","doi":"10.1515/medgen-2026-3017","DOIUrl":"10.1515/medgen-2026-3017","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"279-280"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tagungsrückblick TGA 2026 Kiel. 检索2016-02-26。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3018
{"title":"Tagungsrückblick TGA 2026 Kiel.","authors":"","doi":"10.1515/medgen-2026-3018","DOIUrl":"10.1515/medgen-2026-3018","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"273-276"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Verleihung der GfH-Ehrenmedaille an Frau Prof. Dr. rer. nat. Gudrun Rappold: Laudatio von Prof. Dr. med. Christian Hübner, Institut für Humangenetik, Universitätsklinikum Jena, anlässlich der 36. GfH-Jahrestagung am 04.03.2026 in München. 他被授予荣誉博士学位。娜塔.拉波德教授，医学博士。Christian Hubner，人类遗传学研究所，耶拿大学医院，在第36届。GfH年会于2026年3月4日在慕尼黑举行。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3004
Christian A Hübner
{"title":"Verleihung der GfH-Ehrenmedaille an Frau Prof. Dr. rer. nat. Gudrun Rappold: Laudatio von Prof. Dr. med. Christian Hübner, Institut für Humangenetik, Universitätsklinikum Jena, anlässlich der 36. GfH-Jahrestagung am 04.03.2026 in München.","authors":"Christian A Hübner","doi":"10.1515/medgen-2026-3004","DOIUrl":"https://doi.org/10.1515/medgen-2026-3004","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"259-260"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model. 神经系统疾病的多基因风险评分：不宁腿综合征作为翻译模型。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3015
Juliane Winkelmann, Barbara Schormair
{"title":"Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.","authors":"Juliane Winkelmann, Barbara Schormair","doi":"10.1515/medgen-2026-3015","DOIUrl":"10.1515/medgen-2026-3015","url":null,"abstract":"<p><p>Polygenic risk scores (PRS) aggregate the effects of common genetic variants into a single metric of disease predisposition. Many neurological disorders exhibit a polygenic architecture, thereby providing a rationale for the application of PRS in risk prediction, biological subtyping, and stratification of patients to inform clinical decision-making. Here, we use restless legs syndrome (RLS) as an informative translational model to discuss both opportunities and current constraints of PRS use in neurology. RLS has a well-characterized polygenic component with 164 GWAS risk loci, a PRS with moderate case-control discrimination (AUC 0.73) when used alone, but showing potential for higher performance (AUC 0.82-0.91) in machine-learning models incorporating non-genetic variables. We discuss how multi-omics integration, PRS-based clinical subgrouping, and rare variant penetrance modification can advance PRS development and application in RLS and contextualize these developments within the wider landscape of PRS in neurological disorders.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 3","pages":"211-219"},"PeriodicalIF":1.4,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep phenotyping using foetal MRI. 利用胎儿MRI进行深度表型分析。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2005
Gregor Kasprian, Christian Mitter, Philipp Moser
{"title":"Deep phenotyping using foetal MRI.","authors":"Gregor Kasprian, Christian Mitter, Philipp Moser","doi":"10.1515/medgen-2026-2005","DOIUrl":"10.1515/medgen-2026-2005","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"111-117"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","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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