Ontology highlight
ABSTRACT:
SUBMITTER: Delgado-Vega AM
PROVIDER: S-EPMC5993790 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Delgado-Vega Angélica M AM Martínez-Bueno Manuel M Oparina Nina Y NY López Herráez David D Kristjansdottir Helga H Steinsson Kristján K Kozyrev Sergey V SV Alarcón-Riquelme Marta E ME
Scientific reports 20180608 1
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 protein-protein interaction analysis identified a network of highly connected genes ...[more]