COSMIC, the Catalogue Of Somatic Mutations In Cancer, is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. When it was created in 2004 by researchers with the Cancer Genome Project in conjunction with the Sanger Institute, COSMIC was set up with a big ambition–to be the source of all cancer genomic knowledge.
Today, COSMIC contains nearly 24 million genomic variants across 6,800 precise forms of human cancer. It is the most expansive, expert-curated knowledge hub available for somatic NGS data analysis and interpretation. From molecular pathologists matching mutations to targeted therapies to bioinformaticians looking for patterns of DNA mutations in cancer cells, COSMIC is an excellent resource for identifying and understanding cancer mutations.
Now, as the demand for precision oncology increases, so does the need for a comprehensive cancer genomic knowledge base. Here are 5 reasons why you should be using COSMIC for biopharmaceutical research.
Precision is crucial in developing biopharmaceuticals. Unlike other somatic databases, COSMIC is meticulously and rigorously curated by a team of highly trained, PhD-level experts. This manual curation—the gold standard in genomic curation—ensures that every data point undergoes human scrutiny, giving scientists unparalleled confidence in the accuracy and consistency of the data they rely on. Through comprehensive literature searches, COSMIC’s experts have curated, standardized, and cataloged mutation data, phenotype information, and clinical details from over 1.5 million cancer samples and 29,000 peer-reviewed papers to date.
COSMIC provides an unmatched level of traceability for every data point, empowering scientists with transparency and fostering confidence in the presented evidence. With COSMIC, there is no 'black box'; each piece of information can be traced back to its source, providing users with complete visibility into its origins. This complete transparency is invaluable for biopharmaceutical scientists, especially when dealing with rare variants or variants of unknown significance. In these cases, users can independently assess each piece of data, exercising their judgment on whether to agree or disagree with COSMIC’s data for a particular variant.
In the pursuit of precision oncology, biopharmaceutical scientists must address a wide range of questions about somatic alterations as druggable targets. COSMIC stands as the largest repository of comprehensive genomic, phenotypic, and mutational characteristics of cancers. With COSMIC, you can obtain the most exhaustive information available on mutations associated with a specific cancer type, the frequency and tumor distribution of a specific alteration, driver oncogenic events, candidate therapeutic targets, and much more.
Furthermore, COSMIC’s Actionability functionality assists scientists in tracking and exploring drugs in various stages of development, monitoring the progress of clinical trials, and investigating drugs repurposed to target specific mutations.
And unlike other databases relying on volunteers, COSMIC is continually updated by its team of dedicated expert scientists, ensuring you have access to the accurate and up-to-date insights necessary to advance your translational research efforts.
In the dynamic field of biopharmaceuticals, adaptability is essential. COSMIC offers exceptional flexibility, enabling users to customize their data mining, visualization, and manipulation processes. COSMIC can be seamlessly integrated into your IT systems, allowing automatic updates or scheduled integration of newly released datasets to align with your individual workflow. COSMIC also allows you to customize filters according to your pipeline and fully integrate its data with proprietary databases to obtain a single comprehensive view. With COSMIC, you can easily align the data precisely with your unique research processes, enhancing your ability to extract actionable insights.
In biopharmaceutical research, credibility is earned through adoption. Over 50,000 molecular pathology labs, clinicians, bioinformaticians, and researchers worldwide trust and use COSMIC. It has also been cited in over 10,000 publications. Its extensive usage attests to its accuracy, consistency, and reliability. Recognized in the AMP/ASCO/CAP guidelines as a foundational evidence source for somatic variant assessments, COSMIC allows biopharmaceutical scientists to align their work with the highest standards in the field.
Trying COSMIC in your lab is easy. Simply visit the official COSMIC website, scroll to the bottom of the page, and "Request A Demo". One of our experts will contact you immediately about scheduling a free demo of COSMIC using your lab's data.
In oncology research, identifying potentially actionable gene alterations and exploiting cancer’s molecular vulnerabilities is becoming increasingly difficult. Due to the sporadic nature of somatic cancers, the number of variants detected is rapidly rising.
Clinical research labs are tasked with confidently identifying meaningful mutations that could influence or improve decisions at the point of care. To do this, they need ready-access to trusted data to validate biomarkers and better assess their biological and clinical relevance. And this is precisely what the Human Somatic Mutation Database (HSMD) provides.
HSMD can be used to:
HSMD 2.0 comes with over 140,000 new alterations, improved data visualization and new structural variants. The dataset now contains over 419,000 clinical oncology cases and over 1.5 million mutations associated with over 4.2 million relationships from PubMed, drug labels, clinical trials, clinical guidelines and public databases such as gnomAD and HGMD.
Read the statistics sheet.
Before delving into details, it’s vital to understand that automation and manual curation might work with the same data, but they play in completely different tournaments. It’s almost like comparing Formula 1 and NASCAR – they’re both about cars, but their rules, quality, audience, and specifications are entirely different.
When scientists, bioinformaticians, and clinicians look for a somatic mutation resource to support their next-generation sequencing (NGS) data analysis and precision oncology activities, the priorities are accuracy, transparency, and flexibility. Only one database ticks all of these boxes, and that's COSMIC, the Catalogue of Somatic Mutations in Cancer.
On close inspection, it’s clear that COSMIC is the only major player with the scope and breadth to deliver its offerings. Our analysis provides four key reasons why manual curation is the ‘gold standard’ and will maintain that place on the podium for a while yet.
COSMIC deploys high-precision data curation methods. It comprises information from almost 1.5 million cancer samples, manually curated from more than 28,000 peer-reviewed papers by PhD-level experts with decades of experience. These experts perform exhaustive literature searches to select papers from which they reorganize, interpret, standardize, and catalog mutation data, phenotype information, and clinical details. To date, manual curation remains the gold standard for associating genotypic and phenotypic data, as it is most precise and delivers higher quality data.
On the other hand, there are advanced machine learning tools developed to accelerate the process of retrieving variant evidence from scientific literature. They, however, sometimes leave much to be desired in the quality and accuracy of genomic data extracted. For instance, significant error rates when associating variants with the correct genes are observed with the use of crowdsourcing and artificial intelligence (AI) applications. Significant amounts of undetected disease-associated mutations and false-positive article associations are also issues with text-mining approaches.
In precision oncology, quality is far more important than quantity, which is why we choose manual curation over other options.
Natural language processing (NLP) and machine learning (ML) approaches facilitate “seeding” relationships from articles to describe genotypic and phenotypic relationships. While these approaches let AI-driven databases scale the indexing of PubMed articles, they do not provide the necessary precision needed to curate deep, unstructured biological, phenotypic, and complex clinical data, including graphics, full text, and supplementary material.
However, deep, manual curation does. Consequently, human judgment remains critical to analyzing and capturing complex relationships, interactions, and contradictory evidence. The high-touch, human review process COSMIC employs ensures high accuracy, high specificity, relevance, context, and consistency in data.
In COSMIC, every data point is traceable to the source, and data processing is documented. The data sources that feed into COSMIC to characterize cancer samples and mutations include peer-reviewed papers, targeted gene-screening panels, genome-wide screen data, and cancer cell line omics data — all of which users have full access to and can use as preferred.
COSMIC’s cancer histology/phenotype classification system is unique and is the world’s most comprehensive cancer phenotype classification linked to somatic mutations. Asides from loosely following the World Health Organization’s (WHO) classification system, COSMIC goes into more detail and precedes/anticipates approvals to WHO.
COSMIC presents the cancer site and cancer histology separately: e.g. lung/left lower lobe/ns/ns, carcinoma/adenocarcinoma/ns/ns each in 4 levels.
In clinical genomics, data quality standards are high as outputs are only as reliable as the evidence used to obtain them.
Text-mining tools are useful and helpful in identifying relevant information, but to rely solely on them is to leave the door open to misleading or missing critical evidence.
COSMIC shuts, locks, and seals that door. A team of expert variant scientists updates COSMIC three times a year. They constantly manually review biomedical literature to classify variants and harmonize differences in nomenclature across gene transcripts. COSMIC’s experts focus on continuous curation and variant reclassification— never relying on updates from external entities. It is a database suited to deep, accurate, and thorough explorations of human genetics.
All of this is why COSMIC is a vital addition to any precision oncology toolbox.
With over 71 million somatic mutations, COSMIC is the world’s largest expert-curated somatic mutation database trusted by over 20,000 users. Learn more about the industry-leading database here, where you can explore features, watch videos, and request a complimentary demonstration.
You’re invited to QIAGEN Digital Insights’ first annual Every Lab Summit, a free-to-attend virtual event exploring how any lab, anywhere, of any size can offer precision oncology NGS testing to advance community cancer care.
It’s a new world of NGS. The challenge is no longer how to rapidly sequence DNA, but how to understand and use this genomic data at an equally accelerated pace to improve patient outcomes.
At the Every Lab Summit, our experts will demonstrate how small to mid-sized clinical diagnostic labs can compete to offer comprehensive genomic profiling services for precision oncology with the same speed, expertise, and confidence of large hospital networks and university centers.
Attendees will receive virtual demonstrations of QIAGEN Clinical Insights software, as well as qualify for free trials and/or complimentary consultations of QIAGEN's clinical decision support software and solutions.
View event agenda here.
Around two decades ago, the amount of data about cancer genomes began to increase rapidly. Managing, viewing, and searching for data from disparate locations, publications and databases became a significant challenge for researchers, bioinformaticians, and clinicians. Simple spreadsheets were no longer adequate enough to capture and house the data either.
To solve these issues, scientists at the Wellcome Sanger Institute developed the Catalogue of Somatic Mutations in Cancer (COSMIC) in 2004. COSMIC is the world’s largest and most comprehensive database of somatic mutations in human cancers. Through manually curation by experts for over 16 years, COSMIC holds all previously siloed high-quality somatic mutation information in one platform. The most recent release details more than 37 million coding mutations across almost 1.5 million tumor samples covering 1460 forms of human cancers.
COSMIC has gained several valuable features and functionalities over the years. Most of the early enhancements were focused on standardizing the genotypic and phenotypic terms and data formats used— making it possible to analyze data across different studies and cancer types.
Some of the more recent additions to COSMIC are:
And now, joining the COSMIC suite is the new ‘Mutation Actionability in Precision Oncology” product.
Actionability provides up-to-date information on drugs that target specific somatic mutations at all stages of development— from early case studies to clinical development all the way through to market. With Actionability, you can stay informed on the currently available drugs for a specific somatic mutation, the reasons behind clinical trial withdrawals or terminations, and the mutations being investigated outside of clinical trials. It curates this information from multiple sources, including clinical trials, journal articles, conference abstracts, corporate websites, and FDA submissions.
The first release of Actionability features manually curated data on 805 drugs, 1657 drug combinations, 181 genes, and a total of 2798 trials. The data is available in three forms: as a table organized per gene, as a complete download file, and as a sample file.
Since its inception, the COSMIC database has achieved its foundational goal—to be the source of all cancer genomic knowledge. It is the most comprehensive somatic mutation database available in the world. Now, COSMIC drives future breakthroughs and advances in cancer research and treatment.
Want to find out more about COSMIC and how it can support your investigations of cancer-causing mutations? Then watch our on-demand webinar on COSMIC.
Wednesday, March 25, hear from Dr. Anthony M Magliocco, CEO and Founder of Protean BioDiagnostics, as he discusses the application of whole exome sequencing for guiding clinical trial enrollment for patients with cancer.
The remarkable advances in precision medicine are unfortunately not currently available to all patients, especially those being treated in community cancer settings. This growing “gap” is now challenging the health system to provide cost-effective, scalable, innovative solutions for underserved patients. Protean BioDiagnostics was founded to close this gap and accelerate access to precision oncology for all patients, regardless of where they live. To this end, Protean has created an adaptable and innovative framework for rapidly deploying the latest companion diagnostics. Protean’s simplification of universal access to complex diagnostics is poised to change the practice of precision oncology in the community and truly “close the gap.”
In this webinar, you will learn more about
Date: Wednesday, March 25, 2020
Time: 11 am EDT
