MutationSearch

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Co-development and/or cooperation with diagnostic labs for testing of MutationSearch
Partnerships with sequencer manufacturing companies to test and integrate MutationSearch into existing pipelines
Collaboration with geneticists/physicians to incorporate special needs into diagnostic sequencing
Collaboration with patient organizations to create meaningful reports
Venture capital and angel investors to discuss seed funding for a highgrowth target market

A collaborative platform for fast and accurate analysis of Whole Exome Sequencing (WES) data designed by the creators of one of the most popular variant evaluation tools.

Based on 11 yrs. experience

Peer-reviewed tool with >4K citations

Collaborative platform

Physicians are fully involved in analysis

CE-certification (in progress)

As a IVDR Class C medical device

Rare diseases are frequent, but hard to detect

6,000

distinct rare single gene disorders

> 3.5%

population prevalence

>200M

patients worldwide

5 years

average time until
diagnosis¹

>5 physicians

consulted by 21% of
families²

> €8,000

excess costs
pre-diagnosis³

1 Uniklinika, 2019 2 Voice-12000-patients 3 Golbal Genes, 2019

MutationSearch makes WES accessible

High-throughput sequencing technologies, such as Whole Exome or Genome Sequencing (WES/WGS), allow for the identification of disease-causing DNA variants with a single assay.

As the cost of these approaches continues to decline, WES/WGS will soon become routine diagnostic procedures. 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 05/2022.

MutationSearch: The one-stop shop for WES Analysis

Collaboration

Medical doctors can provide relevant information about the patient’s phenotype, which allows the software to focus on variants in genes likely to cause the disorder.

One-stop shop

The software analyses raw data from DNA sequencers, detects variations from the reference genome and predicts their pathogenicity, even without a clinical diagnosis.

Automated report

MutationSearch will automatically print a report with all information necessary for physicians for a molecular diagnosis.

A collaborative platform for fast and accurate analysis of Whole Exome Sequencing (WES) data designed by the creators of one of the most popular variant evaluation tools.

Based on 11 yrs. experience

Collaborative platform

CE-certification (in progress)

Rare diseases are frequent, but hard to detect

MutationSearch makes WES accessible

MutationSearch: The one-stop shop for WES Analysis

Collaboration

One-stop shop

Automated report

Other software for the elucidation of single gene disorders

MutationTaster

MutationDistiller

RegulationSpotter

GeneDistiller

HomozygosityMapper

The GeneCascade Software Suite

A collaborative platform for fast and accurate analysis of Whole Exome Sequencing (WES) data designed by the creators of one of the most popular variant evaluation tools.

Based on 11 yrs. experience

Collaborative platform

CE-certification (in progress)

Rare diseases are frequent, but hard to detect

MutationSearch makes WES accessible

Mutation­Search: The one-stop shop for WES Analysis

Collaboration

One-stop shop

Automated report

Other software for the eluci­dation of single gene disorders

MutationTaster

MutationDistiller

RegulationSpotter

GeneDistiller

HomozygosityMapper

The GeneCascade Software Suite

MutationSearch: The one-stop shop for WES Analysis

Other software for the elucidation of single gene disorders