Lessons from whole-exome sequencing in MODYX families

Research output: Contribution to journalJournal articleResearchpeer-review

Petra Dusatkova, Mingyan Fang, Stepanka Pruhova, Anette P Gjesing, Ondrej Cinek, Torben Hansen, Oluf B Pedersen, Xun Xu, Jan Lebl

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.

Original languageEnglish
JournalDiabetes Research and Clinical Practice
Issue number3
Pages (from-to)e72-4
Number of pages3
Publication statusPublished - Jun 2014

    Research areas

  • Adolescent, Adult, Aged, Diabetes Mellitus, Type 2, Exome, Female, Genome, Human, Hepatocyte Nuclear Factor 1-beta, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Pedigree, Polymorphism, Genetic, Young Adult

ID: 137900086