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by SubiculumCode 1614 days ago
Thank you for the kind offer. There may indeed be repositories out there to which you could contribute. In terms of the autism phenome project, probably not. For one, the deep phenotyping we do (i.e. collect a lot of data) is a critical component, Also, there is actually a fair amount of variability in the methods to doing DNA sequencing (not an expert), that could pose issues. But again, thank you for the kind offer.
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No problem. I'm not sure of other places, but the cost to me was 300 dollars out of pocket at Nebula.org. They use 30x sequencing which is considered clinical grade and they also offer 100x sequencing, but from what I understand this is pretty much overkill. You can use software to see the areas that had worse coverage if there are any questions.

If you were doing this at scale I'm not sure what Nebula.org offers past some app stuff. All of the useful information I got on my own through using Exomiser/Enrichr on the raw data, although Nebula does have an interesting part to it where you can see where you fall in terms of risk SNPs in terms of percentile to other users (I got 90% on their Systematizing/Autism one there: https://nebula.org/blog/genetics-of-systemizing-in-autism/). When I shipped my sample they used the lab AKESOgen to do the work of sequencing, so maybe you could contact them directly if you had any questions about projects like this.