Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
CentoMD® 2.1: Discover the unique phenotype-genotype search tool
With the recent release of CentoMD® 2.1, the world’s largest mutation database for rare diseases, CENTOGENE has continued to bridge the gap
between genetic variants and clinical interpretation.
CentoMD® 2.1 adds an advanced phenotype-genotype search tool based on the Human Phenotype Ontology (HPO). This allows you to perform not only mutation-based queries but also symptoms-based queries, which return variants detected in cases with similar phenotypes and
accurate global allele frequencies.
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Centogene’s Master Course Series 2016
Don’t miss the chance to participate in
Centogene´s CME accredited Master Course Series 2016. Gain deep insights into the workflow and clinical relevance of whole exome sequencing (WES). Seize this unique opportunity to analyze and interpret the data obtained from a sample of your choosing. Benefit from a comprehensive hands-on training and meet our medical experts. Learn how to master the challenges of genetic
testing in the era of whole exome and whole genome sequencing: There is no better cure than the right diagnosis. Register now as places are