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Lookup NU author(s): Dr Wei-Yu Lin
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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.Socioeconomic status (SES) is a major determinant of health. We studied the Index of Multiple Deprivation Rank of 473 families with individuals with pathogenic autosomal copy number variants (CNVs) and known inheritance status. The IMDR distribution of families with pathogenic CNVs was significantly different from the general population. Families with inherited CNVs were significantly more likely to be living in areas of higher deprivation when compared with families that had individuals with de novo CNVs. These results provide unique insights into biological determinants of SES. As CNVs are relatively frequent in the general population, these results have important medical and policy consequences.
Author(s): Burghel GJ, Khan U, Lin W-Y, Whittaker W, Banka S
Publication type: Article
Publication status: Published
Journal: Journal of Medical Genetics
Year: 2020
Volume: 57
Issue: 1
Pages: 70-72
Print publication date: 13/12/2019
Online publication date: 23/09/2019
Acceptance date: 24/07/2019
ISSN (print): 0022-2593
ISSN (electronic): 1468-6244
Publisher: BMJ Publishing Group
URL: https://doi.org/10.1136/jmedgenet-2019-106292
DOI: 10.1136/jmedgenet-2019-106292
PubMed id: 31548214
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