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  1. Articles on Whole Exome Sequencing

Whole Exome Sequencing – CentoXome®

Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, whole exome sequencing examines thousands of genes simultaneously.

Articles on Whole Exome Sequencing

  • Whole Exome Sequencing Course September 2015

    By participating the WES Master Course 2015, 11 clinicians and clinical scientists from Denmark, Ireland, Kuwait, Lebanon, Saudi Arabia and Turkey took the opportunity to gain deep insight into CENTOGENE`s highly standardized whole whole exome sequencing (WES) workflow from wet-lab over…

  • TALPID3 Controls Centrosome

    Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous…