Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

ConclusionExome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research