Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Aida Maria Bertoli-AvellaKrishna K KandaswamySuliman KhanNatalia Ordonez-HerreraKornelia TripolszkiChristian BeetzMaria Eugenia RochaAlize UrziRonja HotakainenAnika LeubauerRuslan Al-AliVasiliki KarageorgouOana MoldovanPatrícia DiasAmal AlhashemBrahim TabarkiMohammed A AlbalwiAbdulrahman Faiz AlswaidZuhair N Al-HassnanMalak Ali AlghamdiZahra HadipourFatemeh HadipourNadia Al HashmiLihadh Al-GazaliHuma CheemaMaha S ZakiIrina HüningAhmed AlfaresWafaa EyaidFuad Al MutairiMajid AlfadhelFowzan S AlkurayaNouriya Abbas Al-SannaaAisha M AlShamsiNajim AmezianeArndt RolfsPeter BauerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Our results demonstrate the value of data repositories which combine clinical and genetic data for discovering and confirming gene-disease associations. Genetic laboratories should be encouraged to pursue such analyses for the benefit of undiagnosed patients and their families.