Collaboration to introduce whole-genome sequencing with comprehensive variant annotation for Japanese patients affected by hereditary diseases.
Heidelberg, Germany/Shiga, Japan, October 13, 2023 – Takara Bio Inc. has entered into a licensing arrangement with Molecular Health GmbH (MH), a German Precision Medicine company for the use of the MH Guide/Mendel software. The agreement supports genomic medicine by combining Molecular Health’s software with Takara Bio’s genome analysis service.
With the advancement of genomic analysis, it is expected that genomic data will be used for early diagnosis and clarifying treatments for patients with inherited intractable diseases.
On the other hand, the annotation effort of genetic variant data obtained from the genomic analysis of a single patient is enormous. Therefore it is important to make comprehensive use of information from many databases to accurately narrow down the information of genetic variants related to diseases.
Based on the genetic sequence information obtained from Takara Bio’s genome analysis service, MH Guide/Mendel refers to a curated database that summarizes and contextualizes the disease and variant information, and automatically narrows the gene variants that may be causative for the disease from the patient’s gene variant data according to ACMG guidelines. This will allow for precise and efficient identification of significant genetic variant information from the overwhelming quantity of genetic variant data. This advancement will expedite research in the area of hereditary diseases and predispositions.
Features of the agreement
- Variant classification and annotation based on comprehensive expert curated database.
- Normalization and standardization of identified genomic variants to transcript and protein levels, and mappings to both reference genomes GRCh37 and GRCh38 available.
- Automated and precisely described variation based on ACMG guidelines (manual variant assessment is also possible with this service).
- Improved Japanese population-specific variant classification by inclusion of allele frequency reference panel from Tohoku Medical Megabank Organization (ToMMo).
- Detailed variant information is provided along with corresponding disease description.
- Output as an integrated report in various human and machine-readable file formats.
- Structured data export for single cases or large cohorts available.
- Interoperability of service with various EHR systems.
Takara Bio provides clinically meaningful genomic diagnostic analysis through a genetic variant analysis service using MH Guide/Mendel, and will continue to develop innovative services to support genomic research.
NOTE This agreement is intended for research purposes in Japan. MH Guide/Mendel is registered in the European Union (EU) as an in-vitro diagnostic (IVD) medical device according to the latest EU regulation 2017/746 (IVDR) to support personalized medicine. Through the IVDR status, it is subject to strict regulation, monitoring and surveillance.
In the USA, Molecular Health is also certified by Centers of Medicare and Medicaid Services (CMS), under the Clinical Laboratory Improvement Amendments (CLIA), and is accredited by the College of American Pathologists (CAP) as a bioinformatics dry lab.
About Takara Bio Inc. Takara Bio Inc., a global leader in biotechnology research and development, provides a range of life science research solutions, from advanced molecular biology research reagents such as PCR and NGS to contract genomic research services. Takara Bio is committed to preventing disease and improving the quality of life for all people through the use of biotechnology. Website: https://www.takara-bio.com/index.html