Although most of the 6,000+ single-gene disorders are rare, more than 200 million humans suffer from any one of them. Due to their rarity, most singlegene disorders are difficult to diagnose. Many patients and their families live in uncertainty about the name of the disease and its cause for years.

High-throughput sequencing technologies, such as Whole Exome or Genome Sequencing (WES/WGS), allow for the identification of disease-causing DNA mutations with a single assay. As the cost of these approaches continues to decline, WES/WGS will soon become a routine diagnostic procedure. Currently, WES/WGS are only performed in dedicated labs without access to detailed patient information. Most of these labs are using software without CE certification, which will be legally required beginning 2022. 

MutationSearch aims to bring WES/WGS to the clinic as a full-service platform solution to discover the molecular causes of genetic disorders. The software analyses raw data from DNA sequencers, detects variations from the reference genome (~40,000/patient in WES, ~4,000,000/patient in WGS), and predicts their pathogenicity, even without a clinical diagnosis.

Medical doctors can add relevant information about the patient‘s phenotype, which allows the software to focus on variants in genes likely to cause the disorder. MutationSearch will automatically print a report with all information necessary for physicians for a molecular diagnosis.

MutationSearch is powered by an interdisciplinary team of experts in bioinformatics, computer science, molecular medicine, biochemistry, business, and machine learning. They have many years of experience developing scientific software for the elucidation of genetic diseases and disorders. Their software for pathogenicity prediction, MutationTaster, has more than 4,000 citations in the scientific literature.