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I found the issue about storage quite interesting, went digging and I found this article: https://medium.com/precision-medicine/how-big-is-the-human-genome-e90c

I found the issue about storage quite interesting, went digging and I found this article: https://medium.com/precision-medicine/how-big-is-the-human-genome-e90caa3409b0 https://medium.com/precision-medicine/how-big-is-the-human-g... Although the article does not mention it anywhere, I thought such repetitive byte sequences could be compressed quite well with simple file compression. Went digging again. I was wrong, compression of FASTQ genome sequence files IS a thing: https://en.wikipedia.org/wiki/FASTQ_format#Compression https://en.wikipedia.org/wiki/FASTQ_format#Compression

jghn 3y ago
It goes far beyond that. By the time any real analysis is done on these data, they're extremely compressed via other file formats that extract the important signal. Alignment data is stored in BAM/CRAM [1], [2] formats, and variant data in VCF [3] [1] https://en.wikipedia.org/wiki/Binary_Alignment_Map https://en.wikipedia.org/wiki/Binary_Alignment_Map [2] https://en.wikipedia.org/wiki/CRAM_(file_format) https://en.wikipedia.org/wiki/CRAM_(file_format) [3] https://en.wikipedia.org/wiki/Variant_Call_Format https://en.wikipedia.org/wiki/Variant_Call_Format