Lessons from whole-exome sequencing in MODYX families

Dusatkova, P; Fang, MY; Pruhova, S; Gjesing, AP; Cinek, O; Hansen, T; Pedersen, OB; Xu, X; Lebl, J. Diabetes Research and Clinical Practice. 2014 Jun;104(3):e72–4. doi: 10.1016/j.diabres.2014.03.008. Epub 2014 Mar 19. IF: 2.536

RNDr. Petra Dušátková, Ph.D.

RNDr. Petra Dušátková, Ph.D., Department of Paediatrics

Abstract

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

http://www.ncbi.nlm.nih.gov/pubmed/24698406

Created: 28. 12. 2015 / Modified: 1. 2. 2019 / Responsible person: Mgr. Ing. Tereza Kůstková