COSMIC

Standardize tumor classification and variant annotation for reproducible...

Wed, 08 Apr 2026 12:07:27 GMT

Accurate interpretation of cancer genomics depends on standardized disease classification, tumor characterization and variant annotation. In this joint COSMIC and QIAGEN webinar, we show how these robust frameworks enable reliable cohort building and reproducible research.

The webinar covers three themes:

Disease classification: COSMIC’s tumor classification and mapping to NCI Thesaurus and EFO.
Tumor site and histology subtyping: COSMIC’s highly detailed classification system, conversion of histologies into controlled terms, and how these support construction of focused cohorts and studying rare cancer types.
Variant annotation: COSMIC gene identifiers, cross-mapping strategies and annotation conversion.

The session explains COSMIC’s approach, its benefits, common challenges, and practical use cases, combining high-level overviews with technical detail and reproducible demonstrations.

By attending this webinar, you will gain:

A clear understanding of COSMIC disease classification
Guidance on mapping to external ontologies (e.g. NCI Thesaurus)
Insight into how detailed tumor subtyping supports precise cohort building
An understanding of variant cross-mapping
Practical strategies for converting COSMIC annotations for downstream analysis
Demonstrations of reproducible analyses and COSMIC data integration

Unveiling COSMIC’s secret: Curating gene and somatic variant data to power...

Fri, 24 Oct 2025 12:53:58 GMT

The Cancer Gene Census (CGC) is a widely used module within the Catalogue Of Somatic Mutations In Cancer (COSMIC) that comprises an ongoing effort to catalogue and describe all genes with causal impact in human cancer. In CGC, genes are characterized according to their roles in cancer – tumor suppressor, oncogene or fusion gene – and divided into two tiers based on the strength of supporting evidence. On

October 15, our COSMIC and QIAGEN field applications experts will walk you through the scientific and curation processes behind CGC. We will also explore another module, the Cancer Mutation Census (CMC), which classifies coding variants according to their computed pathogenicity. This helps prioritize variants by highlighting mutations with proven functional or clinical relevance, supporting faster interpretation and decision-making.

You will learn about:

• The criteria used to evaluate genes for inclusion into the CGC

• The structured information captured within the CGC and CMC modules

• Their real-world applications across research and clinical contexts

Speaker Info:

Ellen Wiedemann is an Application Scientist at the Welcome Sanger Institute with over a decade of experience in next-generation sequencing (NGS) and bioinformatics.
Kyle Nilson, PhD is a sequencing-focused molecular biologist with a background in biochemistry and technical support. As a field software trainer at QIAGEN Digital Insights, Dr. Nilson works closely with our global bioinformatics team to provide direct customer support and assist with software training, implementation and optimization.

Decipher pediatric cancer complexities with COSMIC

Tue, 03 Jun 2025 12:36:51 GMT

Cancer remains a leading cause of death among children and adolescents worldwide. While many childhood cancers are highly curable, outcomes vary dramatically, with survival rates ranging from 80% in high-income countries to as low as 30% in lower-income regions. These disparities highlight the urgent need for more targeted research into the genetic factors influencing cancer development, early detection and timely, effective treatment.

Despite its importance, pediatric cancers receive only about 4% of global cancer research funding, leaving significant gaps in our collective understanding. Comprehensive, high-quality data is vital to closing these gaps, driving evidence-based care improvements and informing both national and global health policy.

To help these efforts, the Catalogue of Somatic Mutations in Cancer (COSMIC) v102 release focuses on pediatric cancers, showcasing a wealth of genomic data from recent targeted screens. This webinar will:

Explore selected highlights from the new release
Leverage deep curation of patient metadata to compare alterations in childhood vs. adult cancers
Demonstrate how COSMIC’s focus areas of stratification, cause and effect and clinical insights enable progress in this critically under-explored area

Break the ceiling Elevate your oncology NGS testing with expert-curated data

Wed, 05 Feb 2025 15:36:35 GMT

When the Precision Medicine Initiative was launched in 2015, it completely transformed patient care in oncology. Now, individual differences in genetics, environment and lifestyle, along with the tumor’s genetic makeup, are accounted for when determining the best course of treatment for a patient. But, as with any great methodology shift, several challenges impede its widespread implementation. From cancer complexities such as tumor heterogeneity to bottlenecks in next-generation sequencing (NGS) data analysis and interpretation, high-quality and reliable systems are essential for a clinical lab to apply precision medicine effectively.

In this webinar, discover how trusted data curated by highly experienced variant experts can elevate your lab’s clinical NGS testing pipeline. Get acquainted with COSMIC (Catalogue Of Somatic Mutations In Cancer) and HSMD (Human Somatic Mutation Database), their content and ways you can navigate them to retrieve various information.

Specifically, you will:

Do a digital walkthrough of COSMIC’s and HSMD’s user interfaces
Explore the available content, including curated literature, annotations (CADD, PhyloP and more) and data from other resources, such as ClinVar and dbSNP
Examine use cases such as Chernobyl radiation and papillary thyroid cancer

Expanding neoantigen discovery with COSMIC

Wed, 25 Sep 2024 14:01:34 GMT

Neoantigens are among the newest promising targets for cancer treatment. Unlike tumor-associated antigens, neoantigens are produced only by tumor cells. These unique molecular markers are highly visible to the immune system, making them ideal for personalized immunotherapies. They may also be able to predict both tumor survival prognosis and immune checkpoint blockade responses. Neoantigens are presented by human leukocyte antigen class I molecules (HLA-I) to T cells, providing an ideal pathway for detection by shotgun proteomics. To identify these elusive targets, scientists often rely on whole exome sequencing (WES)-derived data. However, this approach can miss rare or low-frequency mutations, especially in cancers with a low tumor mutational burden (TMB).

The Catalogue of Somatic Mutations in Cancer (COSMIC) can bridge this gap by providing researchers with detailed information about somatic mutations in human cancer. Unlock the full potential of neoantigen-targeted therapies and enhance traditional approaches like WES with our comprehensive, expert-curated knowledge base.

In this webinar, you’ll learn to:

Uncover and validate potential neoantigens with a recent peer-reviewed study that uses COSMIC mutation data from human hepatocellular carcinoma (HCC), a low-TMB cancer
Apply the benchmarking results of neoantigen detection performance using HCC-specific variants from COSMIC or DepMap
Take full advantage of the breadth and accuracy of COSMIC data with downloaded content and other resources

Translating COSMIC's gold standard data into actionable insights

Wed, 13 Dec 2023 01:55:25 GMT

As the vast landscape of genetic oncology continues to expand, the ability to understand and utilize the full potential of this rich data becomes increasingly challenging. As a result, researchers, scientists, and clinicians need an accessible, streamlined and standardized way of keeping track of this potentially crucial, ever-growing body of actionable knowledge. Over the course of 20 years, COSMIC, the Catalogue Of Somatic Mutations In Cancer, has expertly curated the world’s largest, most comprehensive database for somatic mutation information relating to human cancer. Today, COSMIC is used worldwide by revered research and clinical institutes, biotech and pharmaceutical companies, and more.

In this webinar, Leonie Hodges, Scientific Communications Officer for COSMIC, will delve into the wide range of datasets that COSMIC offers, detailing the content, how to obtain actionable insights from the genomic data, and how to potentially use this data for real-world applications. Following the talk, there will be a live Q&A with Jennifer Wilding, Scientist Curator at COSMIC and Alex Holmes, Senior Database Curator at COSMIC.

Insights into cancer genomics via COSMIC v98

Fri, 21 Jul 2023 13:51:59 GMT

Our understanding of cancer mechanisms, genetics and complexities continues to expand rapidly. Without a streamlined, standardized and easy to understand organizational system to keep track of this plethora of knowledge, potentially crucial data can effectively be lost. Trusted by scientists for nearly 20 years, COSMIC is the world’s largest, most comprehensive, expert-curated resource for exploring the impact of somatic mutations in human cancers.

Join this webinar with Leonie Hodges, Scientific Communications Officer for COSMIC, to take a journey through COSMIC’s mission and data annotation processes, the results of the latest curation focus on rare skin tumors, and how the team has revamped COSMIC’s download files to improve interoperability, accessibility and useability.

Precisely target the causes of malignancy on a molecular level

Thu, 09 Jun 2022 14:16:00 GMT

Key to precision oncology is the development of expert databases that organize and standardize information on cancer-related genetic variants, as well as their associated diagnostic, prognostic, and therapeutic implications, in a way that is easily accessible to multiple users. COSMIC, the Catalogue of Somatic Mutations in Cancer, was established nearly 20 years ago, and has been a gold-standard resource for this data ever since. Today, COSMIC is used on a daily basis in research labs, cancer centers, biotech, and pharmaceutical companies, where it comes into play as one of the key, trusted sources to analyze genomic data.

In this webinar, Dr. Zbyslaw Sondka, COSMIC's Senior Scientist, and Rebecca White, COSMIC's Scientific Communications Manager, will walk you through 3 key-aspects of the industry leading somatic mutation database.

At the conclusion of this webinar, participants will be able to:

· Apply the breadth and depth of COSMIC's high-quality somatic mutation data to identify proteins, biological processes, and pathways driving disease, which can be used to design new therapeutic approaches that precisely target causes of the malignancy on a molecular level.

· Use tools and resources within COSMIC to bring actionable meaning to genomic data, such as the identification of driver mutations, functional biological consequences, and clinically significant somatic variants, which can aid diagnostics and treatment decisions.

· Explain how COSMIC's expert curation process enables the accumulation and integration of data on rare cancers (over 1500 unique cancer types have been recorded to date), and how this data could enable the development of cross-cutting solutions based on molecular behaviors and genetic similarities between cancers rather than their origin-location.