COSMIC

Using COSMIC to identify actionable mutations in East Asian cancer patients

68 views
June 17, 2021
COSMIC, the Catalogue Of Somatic Mutations In Cancer (https://cancer.sanger.ac.uk/cosmic) is the world’s largest and most comprehensive resource on somatic mutations and other molecular alterations causing every form of human cancer.

Integrating COSMIC into your NGS pipeline accelerates cancer sample analysis by rapidly prioritizing cancer driver mutations, distinguishing VUSes, and determining if an alteration is common or rare in the cancer type of interest.

The database’s contents are primarily obtained from scientific literature and trustworthy online sources like the TCGA and ICGC. During thorough & exhaustive manual curation by a team of experienced post-doctoral experts, all available information about mutations and tumour samples (e.g., disease type, demographic data, treatments) are collected, standardised, and integrated into the database. And to help users navigate its immense dataset, COSMIC offers an ever-expanding portfolio of specialised projects that each present a distinct dataset or view of the data.

COSMIC is updated 3 times a year with substantial new content and functionality. Our most recent release (v94) describes over 71 million somatic mutation events across almost 1.5M tumour samples, detailing mutation patterns in every human gene and regulatory region across multiple mutation mechanisms.

Essential to precision oncology research, COSMIC is fully available through QIAGEN. (https://digitalinsights.qiagen.com/products-overview/cosmic/).

Who should attend?

Cancer scientists and clinical developers (pharmaceutical, diagnostic, academic), bioinformatic scientists, developers & solution providers.

What to expect?

  • Introduction to COSMIC & its hand-curated content
  • Every gene has a pattern of somatic mutations in cancer, we describe over 700 pathogenic genes in functional detail in the Cancer Gene census
  • Phenotypic & genotypic annotations are described at high resolution, inaccessible and integrable formats
  • We describe mutations which also drive resistance to precision medications
  • Mutations which drive cancer cover many genetic mechanisms, all described in COSMIC
  • What’s new? The Cancer Mutation Census details metrics for every mutation to measure its impact in disease, Mutation Actionability - which mutations are druggable (and how successful are they?)
  • How to identify driving and actionable mutations present in East Asian cancer patients?
  • How to download? - everything in easy-to use datasheets for private analysis and integration

Speakers
Dr. Simon Forbes
Head of COSMIC
Wellcome Sanger Institute, Cambridge, UK

Dr. Zbyslaw Sondka
Senior Scientist, COSMIC
Wellcome Sanger Institute, Cambridge, UK

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