Article
Contributions of de novo variants to systemic lupus erythematosus.
European journal of human genetics : EJHG - 1 Jan 2021
Almlöf Jonas Carlsson, Nystedt Sara, Mechtidou Aikaterini, Leonard Dag, Eloranta Maija-Leena, Grosso Giorgia, Sjöwall Christopher, Bengtsson Anders A, Jönsen Andreas, Gunnarsson Iva, Svenungsson Elisabet, Rönnblom Lars, Sandling Johanna K, Syvänen Ann-Christine
Abstract excerpt
By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic lupus erythematosus (SLE, OMIM 152700), we investigated the contribution of de novo variants to risk of SLE. We found de novo single nucleotide variants (SNVs) to be significantly enriched in gene promoters in SLE patients compared with healthy controls at a level...
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