Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

In conclusion, a targeted panel covering a high number of genes responsible for broad phenotypic spectrum can provide improved levels of diagnosis in patients with pediatric onset Mendelian diseases. A careful clinical evaluation of patients prior to the application of a next generation sequencing method leads to the best alternative approach for a conclusive molecular diagnosis.
PMID: 31319225 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - July 14, 2019 Category: Genetics & Stem Cells Authors: Isik E, Onay H, Atik T, Canda E, Çoğulu O, Coker M, Ozkinay F Tags: Eur J Med Genet Source Type: research