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Genomenon announced that it has published the first Cited Variant Reference (CVR)

Genomenon announced that it has published the first Cited Variant Reference (CVR)

Genomenon announced that it has published the first Cited Variant Reference (CVR), a comprehensive catalogue of genetic variants cited in the medical literature. The term “variant” refers to a genomic mutation in the DNA – key data used in searching for causes of cancer and rare diseases.

This first-in-kind Cited Variant Reference contains over 3.7 million genomic variants found in medical literature. Each variant is annotated with a citation count based on the number of scientific publications mentioning the variant, along with a link into the Mastermind® Genomic Search Engine to view full search results for those articles. The CVR is designed to help clinicians and researchers to rapidly prioritize their genomic interpretation.

The CVR was generated from Genomenon’s Mastermind® genomic database, which contains the most comprehensive index of genomic literature in the world. Mastermind is used by diagnostic labs to accelerate genomic interpretation for Next Generation Sequencing (NGS) of DNA, and by pharmaceutical companies to understand the genomic biomarker landscape of any disease.

“Interpreting genomic variants in the light of scientific evidence is the most significant barrier diagnostic labs and pharmaceutical companies face in scaling their NGS application in diagnosis and drug development” said Mike Klein, CEO of Genomenon. “To speed genomic interpretation for cancer and rare diseases, we are providing the Cited Variant Reference at no cost to the medical and scientific community. Everyone can access to this important information to increase the speed and accuracy of health care delivery in the era of precision medicine.”

Genomenon’s partners are using the Cited Variant Reference in their NGS pipeline to filter for variants found in scientific research, and to help their curators quickly find relevant literature as they interpret those variants.

Genomenon adds newly published literature to the Mastermind genomic database weekly, and intends to release the Cited Variant Reference every quarter with updated variants and citation counts.

Genomenon is making the Cited Variants Reference available for download on its website at no cost here: Download the Cited Variants Reference file.