Article
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.
Scientific reports - 8 Jun 2018
Delgado-Vega Angélica M, Martínez-Bueno Manuel, Oparina Nina Y, López Herráez David, Kristjansdottir Helga, Steinsson Kristján, Kozyrev Sergey V, Alarcón-Riquelme Marta E
Abstract excerpt
In an effort to identify rare alleles associated with SLE, we have performed whole exome sequencing of the most distantly related affected individuals from two large Icelandic multicase SLE families followed by Ta targeted genotyping of additional relatives. We identified multiple rare likely pathogenic variants in nineteen genes co-segregating with the disease through multiple generations. Gene co-expression and...
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