Exemplifying the Strengths of Genome Sequencing

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected by Genome Sequencing (GS). Utilizing the superiority of the latter technology, CENTOGENE identified such a variant as the cause of a novel disorder. Teaming up with academic colleagues for functional studies on this finding resulted in a high impact publication in Genetics in Medicine, with shared senior authorship for CENTOGENE as a reflection of the company’s significant role in the study.


  • Diane D Shao
  • et al.