دورية أكاديمية
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future.
| العنوان: | Genetic-based prediction of disease traits: prediction is very difficult, especially about the future. |
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| المؤلفون: | Schrodi SJ; Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA., Mukherjee S; Department of Medicine, School of Medicine, University of Washington Seattle, WA, USA., Shan Y; Departments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh PA, USA., Tromp G; Sigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA., Sninsky JJ; Subsidiary of Quest Diagnostics, Discovery Research, Celera Corporation Alameda, CA, USA., Callear AP; Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA ; Department of Biological Sciences, University of Pittsburgh Pittsburgh, PA, USA., Carter TC; Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA., Ye Z; Biomedical Informatics Research Center, Marshfield Clinic Research Foundation Marshfield, WI, USA., Haines JL; Department of Epidemiology and Biostatistics, Case Western Reserve School of Medicine Cleveland, OH, USA., Brilliant MH; Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA., Crane PK; Department of Medicine, School of Medicine, University of Washington Seattle, WA, USA., Smelser DT; Sigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA., Elston RC; Department of Epidemiology and Biostatistics, Case Western Reserve School of Medicine Cleveland, OH, USA., Weeks DE; Departments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh PA, USA. |
| المصدر: | Frontiers in genetics [Front Genet] 2014 Jun 02; Vol. 5, pp. 162. Date of Electronic Publication: 2014 Jun 02 (Print Publication: 2014). |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | Translation of results from genetic findings to inform medical practice is a highly anticipated goal of human genetics. The aim of this paper is to review and discuss the role of genetics in medically-relevant prediction. Germline genetics presages disease onset and therefore can contribute prognostic signals that augment laboratory tests and clinical features. As such, the impact of genetic-based predictive models on clinical decisions and therapy choice could be profound. However, given that (i) medical traits result from a complex interplay between genetic and environmental factors, (ii) the underlying genetic architectures for susceptibility to common diseases are not well-understood, and (iii) replicable susceptibility alleles, in combination, account for only a moderate amount of disease heritability, there are substantial challenges to constructing and implementing genetic risk prediction models with high utility. In spite of these challenges, concerted progress has continued in this area with an ongoing accumulation of studies that identify disease predisposing genotypes. Several statistical approaches with the aim of predicting disease have been published. Here we summarize the current state of disease susceptibility mapping and pharmacogenetics efforts for risk prediction, describe methods used to construct and evaluate genetic-based predictive models, and discuss applications. |
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| معلومات مُعتمدة: | U01 HG006385 United States HG NHGRI NIH HHS; UL1 TR000427 United States TR NCATS NIH HHS; U01 HG006382 United States HG NHGRI NIH HHS; U01 HG004603 United States HG NHGRI NIH HHS; UL1 RR025011 United States RR NCRR NIH HHS; U01 HG006378 United States HG NHGRI NIH HHS; U01 HG004608 United States HG NHGRI NIH HHS; U01 HG006375 United States HG NHGRI NIH HHS; U01 HG004438 United States HG NHGRI NIH HHS |
| فهرسة مساهمة: | Keywords: clinical utility; genetic risk; human genetics; predictive model; prognosis |
| تواريخ الأحداث: | Date Created: 20140612 Date Completed: 20140624 Latest Revision: 20211021 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC4040440 |
| DOI: | 10.3389/fgene.2014.00162 |
| PMID: | 24917882 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2014.00162 |