Inquiry on MAF-style mutation data for healthy individuals

[Rodrigo Henrique Ramos]

Dear cBioPortal Team,

I am a Computer Science researcher with experience in cancer genomics, where I frequently used the MAF files available in cBioPortal. These files are helpful since they provide a straightforward mapping between samples and altered genes.

For my current research, I am interested in exploring genetic alterations in healthy individuals. I would like to ask if cBioPortal hosts, or could point me to, any dataset in MAF or similar format that summarizes variants in healthy samples.

Thank you very much for your guidance and support.

Best regards,
Rodrigo Henrique Ramos

[JJ Gao]

Dear Rodrigo,

We recently released three studies with mutations data in normal tissues:

• Normal Melanocytes (UCSF, Nature 2020)
• Normal Keratinocytes from human skin (UCSF, BioRxiv 2024) 
• Normal Fibroblasts from human skin (UCSF, BioRxiv 2024) 

The MAFs can be downloaded. Are these what you are looking for?

-JJ

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[Rodrigo Henrique Ramos]

Dear Gao,

This is precisely what I need. Thank you very much.

I am currently studying causal model discovery from observational data, expanding a previous work, by comparing normal samples with cancer samples.

My aim is to compare causal models from Normal Melanocytes with Cutaneous Melanoma (TCGA, GDC).

Thank you again.

Best regards

Rodrigo Ramos