ClinGenics Ltd is a UK company founded in late 2016, with the aim of advancing patient care and support through the development and provision of state-of-the art clinical decision-support and genomic testing solutions for physicians and patients
As genome or exome sequencing of an individual typically generates thousands of gene variants relative to the human reference sequence, identifying the variant(s) of potential causative effect, i.e. clinically significant variant(s) directly related to the patient’s phenotype, is a challenging and demanding task.
In order to address these challenges, and starting in early 2012, the first version of the Exome Management Application-EMA® pipeline software was designed and implemented. For more than 5 years the Exome Management Application-EMA® pipeline has been methodically developed, refined and field-tested in more than 600 whole exome sequencing (WES) clinical cases, to become a very powerful variant interpretation tool, aiding decisively in the diagnosis of hundreds of complex and rare disorders (see publications).
The final variant interpretation report provided by ClinGenics has the added important feature of incorporating expert manual curation, personalized interpretation and case-specific comments and suggestions for further actions, thus fulfilling its role as a true decision support tool.