Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.
Maria KuleckaAndrzej HabiorAgnieszka PaziewskaKrzysztof GorycaMichalina DąbrowskaFilip AmbrozkiewiczBożena Walewska-ZieleckaAndrzej GabrielMichal MikulaJerzy OstrowskiPublished in: Gastroenterology research and practice (2017)
WES is a potentially useful diagnostic tool in determining genetic background of multifactorial diseases, but its main limitation results from the lack of opportunities for direct linkage between the uncovered genetic variants and molecular mechanisms of disease.