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Joined 1 year ago
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Cake day: February 24th, 2025

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  • I’m not familiar with the name of the file I’m currently working with tbh. It’s used to create the annotation files for regenie analyses. It has every variant for every gene within the biobank. There’s far more than just missense; there are stop/start gain/loss, splice donor/acceptor, frameshifts, and ptv. It contains primateAI scores, spliceAI scores, cava data, clinvar data, and more.


  • yes, all that data is extrapolated directly from DNA. It’s a huge amount of information. All the DNA in a single human cell is directly translated to about 750MiB. Now, add in the fact that genomic studies use biobanks, like the UK Biobank, which contains the genetic info of hundreds of thousands of people. The data we can extrapolate from DNA is absolutely massive.