دورية أكاديمية
Decoding polygenic diseases: advances in noncoding variant prioritization and validation.
| العنوان: | Decoding polygenic diseases: advances in noncoding variant prioritization and validation. |
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| المؤلفون: | Chin IM; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA., Gardell ZA; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA., Corces MR; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA. Electronic address: ryan.corces@gladstone.ucsf.edu. |
| المصدر: | Trends in cell biology [Trends Cell Biol] 2024 Jun; Vol. 34 (6), pp. 465-483. Date of Electronic Publication: 2024 May 07. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science Publishers Country of Publication: England NLM ID: 9200566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3088 (Electronic) Linking ISSN: 09628924 NLM ISO Abbreviation: Trends Cell Biol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Cambridge, UK : Elsevier Science Publishers, c1991- |
| مواضيع طبية MeSH: | Multifactorial Inheritance*/genetics , Genome-Wide Association Study*, Humans ; Genetic Predisposition to Disease ; Genetic Variation ; Animals |
| مستخلص: | Genome-wide association studies (GWASs) provide a key foundation for elucidating the genetic underpinnings of common polygenic diseases. However, these studies have limitations in their ability to assign causality to particular genetic variants, especially those residing in the noncoding genome. Over the past decade, technological and methodological advances in both analytical and empirical prioritization of noncoding variants have enabled the identification of causative variants by leveraging orthogonal functional evidence at increasing scale. In this review, we present an overview of these approaches and describe how this workflow provides the groundwork necessary to move beyond associations toward genetically informed studies on the molecular and cellular mechanisms of polygenic disease. Competing Interests: Declaration of interests The authors declare no competing interests. (Copyright © 2024 Elsevier Ltd. All rights reserved.) |
| فهرسة مساهمة: | Keywords: GWAS; fine-mapping; functional genomics; noncoding variant; variant effect prediction; variant prioritization |
| تواريخ الأحداث: | Date Created: 20240508 Date Completed: 20240607 Latest Revision: 20240612 |
| رمز التحديث: | 20240612 |
| DOI: | 10.1016/j.tcb.2024.03.005 |
| PMID: | 38719704 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1879-3088 |
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| DOI: | 10.1016/j.tcb.2024.03.005 |