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Celebrating 10 million mutations curated!

31 Mar 2021

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Recently we reached a huge milestone, 10,000,000 mutations curated! We’d like to share a spotlight on Amaia Sangrador-Vegas, one of COSMIC’s expert curation team, who curated this milestone mutation.

Amaia joined the COSMIC team, two years ago as a Senior Database Curator. Formerly a research scientist, who completed her PhD in Spain, Amaia received a Marie Curie postdoctoral grant to undertake research on the health and immunity of fish and aquaculture, in Ireland. Later research encompassed bacteria and probiotics, before applying her scientific and molecular biology knowledge in a curation role. Having learnt bioinformatics during her career, Amaia’s knowledge of Python, SQL and Oracle made her a perfect fit for programmatic curation and supporting the technical needs of the complex curation system in the COSMIC team.

Amaia programmatically curates data into the COSMIC database from large targeted papers, whole exome screens (WES) and whole genome screens (WGS). This approach captures a broad perspective of somatic data alongside deep genic data captured through our manual curation and provides mutation annotations on every human gene on every human regulatory element.

Our 10,000,000 mutation was c.1202G>T SMAD2 mutation and will be available in release v95, available later this year. It is a single nucleotide substitution (c.1202G>T) that results in a missense mutation (p.G401V) in the Cancer Census Gene, SMAD2. This mutation was found in a sample from metastatic urothelial carcinoma, described in paper PMID 32321774 (when released COSP49072), using a panel of 450 cancer-associated genes.

This massive achievement calls for a reason to celebrate and thank our entire dedicated, expert curation team who have collectively contributed over 50 PhD person years COSMIC curation.