Portal de Periódicos da CAPES

Exome Sequencing in Children

2019; Deutscher Ärzte-Verlag; Linguagem: Inglês

10.3238/arztebl.2019.0197

1866-0452

Elisa A. Mahler, Jessika Johannsen, Konstantinos Tsiakas, Katja Kloth, Sabine Lüttgen, Chris Mühlhausen, Bader Alhaddad, Tobias B. Haack, Tim M. Strom, Fanny Kortüm, Thomas Meitinger, Ania C. Muntau, René Santer, Christian Kubisch, Davor Lessel, Jonas Denecke, Maja Hempel,

Congenital heart defects research

In developed countries, global developmental disorders are encounter- ed in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investi- gation of the coding sequences of all genes of the affected individual (whole exome sequencing, WES) has developed into a successful diagnostic method for identify- ing the cause of the problem. It is not yet clear, however, when WES should best be used in routine clinical practice in order to exploit the potential of this method to the fullest.