Read the preprint here with all the details, plus lots of other long-read powered analysis! www.medrxiv.org/content/10.1...

This uncovers strong links between population-enriched SVs and conditions such as metabolic disease, cardiovascular disorders, and immune phenotypes. Huge thanks to the whole team co-led by Kiran Garimella, @sedlazeck.bsky.social, Michael Talkowski, Evan Eichler, and me.

We call SVs from PacBio HiFi long read data, and then impute into 10k AoU short-read datasets with EHR data to identify 291 SV–disease associations across 226 traits, with over half absent from the short-read callset. Fine-mapping revealed that SVs were the lead variant for ~70% of loci!!!!

Easy! We dont we change the USA to the metric system too while we are at it!

zcat reads.fq | paste - - - - | awk '{print $2}'

I dont think this is totally up to date, but I bet this still generally reflects the overall distribution in capacity: enseqlopedia.com/ngs-mapped/

Ten trillion years ago we tried to track this down from and predicted we should be about exabyte range now, but I have not tried to revise this estimate since. journals.plos.org/plosbiology/...

My strong belief is there is much more sequencing going on in private companies (especially diagnostics) than academic work so just looking at SRA/ENA will substantially undercount

This is a hard number to track. Illumina, PacBio, & ONT are publicly traded companies so you can get an estimate of instruments & reagents sold from their disclosures, but that doesnt mean they are actively being used by their customers at full capacity.