[184905541]
I have 2 concerns, but i think only 1 of them may still be true for new customers because i believe nebula currently offers higher coverage sequencing results (30x, rather than 0. 5x). My concern is that i think is still valid is the rigor of the health-related results. For example, i see percentiles (for what i believe are polygenic risk scores, even if only a limited number of variants are calculated). I think the percentiles are likely to confuse customers (since risk may be mostly normal, even with relatively high and low percentiles), and i am also not sure what is the predictive power/ reproducibility of what is being reported for the health results (or whether this has been checked by the fda). For earlier customers, i have specific concerns about the accuracy of the imputed genotypes from low-coverage whole genome sequencing data (which may not be a concern for new customers). I think the link will be removed from maude; however, in terms of providing info to the fda, there is add'l info available here: (b)(6), i also uploaded data to my personal genome project page on 07/11/2019: (b)(6), if the fda would like more info, then i would be glad to provide it. However, these are essentially my concerns: i have one copy of the apoe e4 allele for alzheimer's disease risk, but the imputed genotypes said that 2 wt/e3 alleles with higher confidence, and the accuracy when i compared my higher coverage wgs genotypes to my icwgs imputed genotypes (with custom code as well as in precision fda) was lower than you might expect at being closer to approx 90% than 99% (but still higher than i would get when i tested generating gencove imputed variants for my cat's sample). I think the imputed genotypes were acceptable for broad ancestry and close family relationships, but i don't think they should be acceptable for health results (since i don't think the genotypes for an individual variant are sufficiently accurate). Nebula genomics. Fda safety report id # (b)(4).
Patient Sequence No: 1, Text Type: D, B5