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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

Unmet Needs in Human Genomic Variant Interpretation

The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent […]

Article
Oct 25, 2017
  • WGS
  • WES
  • Mutation Database
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Clinical Exome Sequencing – Results from 2819 Samples Reflecting 1000 Families

A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients […]

Article
Nov 15, 2016
  • WES
  • NGS
  • Mutation Database
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Global Genotype–Phenotype Database for Rare Diseases

"The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the […]

Article
Oct 31, 2016
  • WGS
  • NGS
  • Mutation Database
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