title: Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison.
authors: Gholson J
authors: GJ
authors: Lyon
mesh_terms: D000123:Acetyltransferases / Q000235:genetics; D019295:Computational Biology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation* / Q000379:methods*; D006801:Humans; D063209:N-Terminal Acetyltransferase A; D063213:N-Terminal Acetyltransferase E
chemical_list: D000123:Acetyltransferases; D063209:N-Terminal Acetyltransferase A; C504824:NAA10 protein, human; D063213:N-Terminal Acetyltransferase E