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dc.contributor.authorDing, James; orcid: 0000-0001-7273-9646; email: james.ding@manchester.ac.uk
dc.contributor.authorFrantzeskos, Antonios; orcid: 0000-0002-2073-7750
dc.contributor.authorOrozco, Gisela; orcid: 0000-0002-3479-0448
dc.date.accessioned2021-09-25T01:06:01Z
dc.date.available2021-09-25T01:06:01Z
dc.date.issued2021-09-10
dc.date.submitted2021-06-30
dc.identifierpubmed: 34508276
dc.identifierdoi: 10.1007/s00281-021-00887-4
dc.identifierpii: 10.1007/s00281-021-00887-4
dc.identifier.citationSeminars in immunopathology
dc.identifier.urihttp://hdl.handle.net/10034/625935
dc.descriptionFrom PubMed via Jisc Publications Router
dc.descriptionHistory: received 2021-06-30, accepted 2021-08-13
dc.descriptionPublication status: aheadofprint
dc.descriptionFunder: Wellcome Trust; Grant(s): 207491/Z/17/Z
dc.descriptionFunder: Versus Arthritis; Grant(s): 21754
dc.description.abstractGenetic studies, including genome-wide association studies, have identified many common variants that are associated with autoimmune diseases. Strikingly, in addition to being frequently observed in healthy individuals, a number of these variants are shared across diseases with diverse clinical presentations. This highlights the potential for improved autoimmune disease understanding which could be achieved by characterising the mechanism by which variants lead to increased risk of disease. Of particular interest is the potential for identifying novel drug targets or of repositioning drugs currently used in other diseases. The majority of autoimmune disease variants do not alter coding regions and it is often difficult to generate a plausible hypothetical mechanism by which variants affect disease-relevant genes and pathways. Given the interest in this area, considerable effort has been invested in developing and applying appropriate methodologies. Two of the most important technologies in this space include both low- and high-throughput genomic perturbation using the CRISPR/Cas9 system and massively parallel reporter assays. In this review, we introduce the field of autoimmune disease functional genomics and use numerous examples to demonstrate the recent and potential future impact of these technologies. [Abstract copyright: © 2021. The Author(s).]
dc.languageeng
dc.sourceeissn: 1863-2300
dc.subjectCRISPR/Cas9
dc.subjectMPRA
dc.subjectAutoimmune disease
dc.subjectFunctional genetics
dc.titleFunctional interrogation of autoimmune disease genetics using CRISPR/Cas9 technologies and massively parallel reporter assays.
dc.typearticle
dc.date.updated2021-09-25T01:06:01Z
dc.date.accepted2021-08-13


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