Exome sequencing can improve diagnosis and alter patient management.

Autor: Dixon-Salazar TJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Silhavy JL; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Udpa N; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA., Schroth J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Bielas S; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Schaffer AE; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Olvera J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Bafna V; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Abdel-Salam GH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Mansour LA; Cairo University Children's Hospital, Cairo 406, Egypt., Selim L; Cairo University Children's Hospital, Cairo 406, Egypt., Abdel-Hadi S; Cairo University Children's Hospital, Cairo 406, Egypt., Marzouki N; Laboratoire Génétique Moléculaire, El Razi University Hospital, Marrakech 2360, Morocco., Ben-Omran T; Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar., Al-Saana NA; Department of Pediatrics, Dhahran Health Center, Saudi Aramco Corporation, Dhahran 31311, KSA., Sonmez FM; Child Neurology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey., Celep F; Medical Biology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey., Azam M; Department of Paediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan., Hill KJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Collazo A; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Fenstermaker AG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Novarino G; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Akizu N; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Garimella KV; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Sougnez C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Russ C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Gabriel SB; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Gleeson JG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.

Publikováno v: Science translational medicine [Sci Transl Med] 2012 Jun 13; Vol. 4 (138), pp. 138ra78.