Bonthron, DT orcid.org/0000-0001-8132-8179 and Foulkes, WD (2017) Genetics meets Pathology - an increasingly important relationship. Journal of Pathology, 241 (2). pp. 119-122. ISSN 0022-3417
Abstract
The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of the Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics. Through these, we illustrate the power of genetic analysis to improve our understanding of normal physiology and disease pathology, and thereby to think in rational ways about clinical management.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | This article is protected by copyright. This is the peer reviewed version of the following article: Bonthron, D. T. and Foulkes, W. D. (2016), Genetics meets Pathology – an increasingly important relationship. J. Pathol., which will be published in final form at https://doi.org/10.1002/path.4849. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. |
Keywords: | genetics; genomics; DNA sequencing; precision medicine; complex traits; rare diseases; molecular oncology; evolution; genome stability; clonality; mTOR; inflammasome; polyposis; colon cancer; prostate cancer; brain tumour; PARP; DNA repair; carcinoma in situ; tuberous sclerosis; Parkinson's disease; PINK1; Crispr/Cas9; stem cells; muscular dystrophy; ciliopathy; vascular malformation; pulmonary hypertension; TGF-beta; autoimmunity; atopy; inflammatory bowel disease; breast cancer; mitochondrial disease |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 16 Dec 2016 12:21 |
Last Modified: | 14 Nov 2017 01:38 |
Published Version: | https://doi.org/10.1002/path.4849 |
Status: | Published |
Publisher: | Wiley |
Identification Number: | 10.1002/path.4849 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:109568 |