LifeMap Sciences Announces WGS Phenotype-Driven Structural Variation Interpretation in Version 3 of its Clinical Genetics Platform, TGex

  • Used by some of the largest pediatric centers in China and Europe, TGex now offers rapid WGS analysis and interpretation for rare pediatric disorders for both SNV and Structural Variations
  • The new version leverages the GeneHancer database of regulatory elements, and VarElect, the NGS Phenotyper, to interpret the effect of structural variations on disease and health

ALAMEDA, Calif.--()--LifeMap Sciences, a subsidiary of AgeX Therapeutics, has announced the release of Version 3.0 of its clinical genetics platform, TGex, including phenotype-driven analysis and interpretation for structural variations, leveraging the GeneCards® Suite Knowledgebase (www.genecards.org), the GeneHancer database, and VarElect (varelect.genecards.org).

The new version introduces a revolutionary way of interpreting structural variations based on patient phenotypes. Whether the variation affects a protein coding gene, or a regulatory element that is associated with it, TGex scores the variation based on the association with the patient's phenotypes, and provides detailed evidence, including link between enhancers and genes, and, most importantly, the association between the gene and the phenotype.

For this purpose, TGex leverages the GeneHancer database, a part of the GeneCards Suite Knowledgebase, which is a comprehensive database of regulatory elements and their association with genes integrated from four data sources. Together with VarElect, it enables linking all the way from regulatory elements (enhancers / promoters) to a set of phenotypes through associated genes. Implemented within TGex, it allows one to perform phenotype-driven analysis on both CNVs and SNVs on a genome-wide scale.

"With more labs transitioning from Exome to Whole Genome Sequencing, and starting to look at structural variations as part of the interpretation process for rare disorders, we believe we are addressing a big challenge in making sense of these by providing this innovative phenotype-driven interpretation solution," said Yaron Guan-Golan, CEO of LifeMap Sciences.

"We are delighted to see how the knowledgebase and tools of the GeneCards Suite, including VarElect and GeneHancer, empower TGex's Whole Genome Sequencing interpretation," said Prof. Doron Lancet, Principal Investigator of the GeneCards Suite project at the Weizmann Institute of Science.

About LifeMap Sciences

LifeMap Sciences is a life sciences technology company that develops and commercializes innovative Next Generation Sequencing analysis solutions and tools, as well as the company's core technology, the GeneCards® Suite Knowledgebase, which is developed at the Weizmann Institute of Sciences in Israel, to improve biomedical research & healthcare. Its TGex platform (https://tgex-app.genecards.org and https://tgex-app.genecards.cn in China) is a Clinical Genetics platform that provides accurate and rapid analysis, interpretation and reporting for rare disease diagnosis, health screening and tumor biopsy. TGex is based on the GeneCards Suite Knowledgebase (www.genecards.org), which integrates information from more than 150 data sources and is a popular biomedical database that is used by 3.5 million users from >3,000 institutions world-wide, including top biotech-pharma, hospitals and academia.

About the Weizmann Institute of Science and GeneCards

The Weizmann Institute of Science in Rehovot, Israel, is one of the world's top-ranking multidisciplinary research institutions. Noted for its wide-ranging exploration of the natural and exact sciences, the Institute is home to scientists, postdoctoral fellows, Ph.D. and M.Sc. students, and scientific, technical and administrative staff. In addition, visiting scientists and their families – over 500 from 35 countries are regularly hosted at the Institute. The Institute was founded in 1934 following a donation from Israel and Rebecca Sieff to Dr. Chaim Weizmann, a noted biochemist and biotechnologist, who envisioned the establishment of a world-class scientific research center in Israel, and later also became the first President of the State of Israel. Weizmann Institute's Feinberg Graduate School, established in 1958, has 1200 M.Sc. and Ph.D. students enrolled in studies covering the Institute's five faculties: Biochemistry, Biology, Chemistry, Physics, and Mathematics and Computer Science. The Institute's technology transfer arm, Yeda Research and Development Co. Ltd. was the first company of its kind in Israel, and is currently one of the most successful worldwide. Institute research efforts include the search for new ways of fighting disease and hunger, examining leading questions in mathematics and computer science, probing the physics of matter and the universe, creating novel materials and developing new strategies for protecting the environment. Particular excellence in bioinformatics and systems biology is manifested, among others, in the GeneCards project, initiated in 1996, under the leadership of Prof. Doron Lancet of the Dept. of Molecular Genetics, until recently Head of the Crown Human Genome Center. A team of 10 led by Marilyn Safran continuously innovates and keeps GeneCards as a world-top human gene compendium, automatically mining and integrating 150 worldwide web resources.

About AgeX Therapeutics.

AgeX Therapeutics, Inc., a subsidiary of BioTime, Inc., is a biotechnology company applying technology relating to cellular immortality and regenerative biology to aging and age-related diseases. The company has three initial areas of product development: pluripotent stem cell-derived brown adipocytes (AGEX-BAT1); vascular progenitors (AGEX-VASC1); and induced Tissue Regeneration (iTR). Initial planned indications for these products are Type 2 diabetes, cardiac ischemia, and scarless tissue regeneration respectively. AgeX's ESI BIO division markets stem cell lines for the research product market. For more information, please visit www.agexinc.com or connect with the company on Twitter or Facebook.

Contacts

LifeMap Sciences, Inc.
Yaron Guan Golan
Chief Executive Officer
yg@lifemapsc.com

Contacts

LifeMap Sciences, Inc.
Yaron Guan Golan
Chief Executive Officer
yg@lifemapsc.com