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Ah, that clarifies it, thank you. I didn't realize that the raw dumps on 23andme would differ depending on which version of the product you paid for, as well as
by filoleg 7y ago
Ah, that clarifies it, thank you. I didn't realize that the raw dumps on 23andme would differ depending on which version of the product you paid for, as well as the inherent imprecision of those.
- dekhn 7y agoIf you want a high quality genome (ilumina UYG) to start with, it's https://my.pgp-hms.org/profile/hu80855C https://my.pgp-hms.org/profile/hu80855C which includes the original BAM files (so you can try your own mapping) as well as called variants (conveniently[?] segregated into SNPs and indels). I would expect "everything" you need (except for long reads) is here for you to determine if the owner of that genotype (I can vouch for them...) has the genetic alterations described in this article (https://www.nature.com/articles/s41467-019-11119-7 https://www.nature.com/articles/s41467-019-11119-7) after performing some sort of magical rat/human remapping (tricky) or referencing off of https://www.omim.org/entry/615656 https://www.omim.org/entry/615656 I would be impressed if somebody could actually make a clinically actionable recommendation for this genome, as Illumina described it as have zero known risk.