QCI I Translational

Germline and Somatic Variant Investigation using COSMIC, HGMD and QCI-IT

51 views
May 02, 2024
The accurate identification and annotation of germline and somatic variants rely on the accuracy and depth of reference databases containing information about the genetic variants, any associated phenotype and their clinical implications. By combining COSMIC, HGMD and QIAGEN QCI IT, scientists can annotate gene variants using the world’s most comprehensive and up-to-date curated scientific evidence and find biological connections in gene variants with manually curated scientific findings. The software and databases allow you to get valuable and reliable insights for your research project and speed up your discoveries related to disease-causing and disease-associated germline and somatic variants.

In this training, you will:

1. Learn about the Catalogue of Somatic Mutations in Cancer (COSMIC), the world’s largest, most comprehensive, expert-curated resource for somatic mutations in human cancers, and how it can help you identify variants of interest for cancer research.
2. Hear about the breadth and depth of the Human Gene Mutation Database (HGMD) and how it can aid in your search for disease-causing and disease-associated germline mutations.
3. Explore the capabilities of QCI IT, which can help accelerate your discoveries from hereditary or tumor cohort analyses and find associations between gene variants and diseases from VCF files.

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