Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Ramakrishnan RajagopalanMelissa A GilbertDeborah A McEldrewJames A NassurKathleen M LoomesDavid A PiccoliIan D KrantzLaura K ConlinNancy B SpinnerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
GS provided an increased diagnostic yield for individuals with clinically defined ALGS who had prior negative or incomplete genetic testing by other methods. Our results show that GS can detect all major classes of variants and has potential to become a single first-tier diagnostic test for Mendelian disorders.