Illumina said today it will donate more than 8,000 associations of variants linked to tumors to the Clinical Interpretation of Variants in Cancer (CIViC) resource, an open database hosted by Washington University in St. Louis.

Illumina said its donation of the somatic genetic alterations will triple the number of associations in the CIViC database, making the company the largest donor to the project.

The donated interpretations, with evidence linked directly to peer-reviewed source publications, are designed to help clinical research laboratories carry out precision oncology.

The donation includes information linked to cancer therapies and cancer subtyping to help clinical researchers identify relevant information associated with tumor variants gathered from publications and drug labels, Illumina said.

The 8,000+ associations cover more than 3,500 unique variants extracted from close to 700 scientific publications. Included is data on 74 drugs associated with 100 cancer types that have been collected over five years by a research team.

The variant associations are available within BaseSpace Variant Interpreter (Beta), for use in aiding in interpreting the significance of individuals’ genetic variants. Standards employed for variant curation are similar to those recently published by the Association for Molecular Pathology (AMP), American Society of Clinical Oncology (ASCO), and College of American Pathologist (CAP), Illumina said.

“This extensive data set will expand our shared genomic knowledge and enable researchers to design personalized therapeutics which aids in advancing genomics into healthcare,” Sanjay Chikarmane, senior vice president and general manager at Illumina, said in a statement. “The donation to CIViC and ClinVar represents our commitment to help researchers access and share the secure health data information they need to transform healthcare.”

In October, Illumina donated more than 95,000 human genetic variants to ClinVar to assist with rare disease diagnosis. Illumina said its contribution included variants of all classifications, from pathogenic to benign, that were identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.








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