title: The journey of exome sequencing from disease mutations discovery to clinical genomics.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@Kfshrc.edu.sa.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@Kfshrc.edu.sa.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.|Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
authors.forename: Chee Seng
authors.initials: CS
authors.lastname: Ku
mesh_terms: D004194:Disease / Q000235:genetics*; D059472:Exome; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*