Timeline for How accurate are Illumina microarray chips for genotyping?
Current License: CC BY-SA 4.0
4 events
when toggle format | what | by | license | comment | |
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Aug 1, 2019 at 12:28 | vote | accept | Joe | ||
Aug 1, 2019 at 7:14 | comment | added | Maximilian Press | Hi Joe, I am understanding "call rate" to mean the rate at which the chip provides enough information for the chip-reading software to be confident enough to give a genotype in the first place. To state it differently, <0.5% of the SNP data will be missing. So not a false positive, but maybe a false negative. Also, SNPs are usually present in triplicate/quadruplicate on a chip, so there is backup for failures. For serious disease though, a chip is not a great detection tool for this reason, I believe chips are generally not used medically (?). Mostly for research cause they're quite cheap. | |
Aug 1, 2019 at 0:42 | comment | added | Joe | Thank you for the thoughtful response. Am I correct in saying that since what they refer to as the "call rate" is >99.5%, that out of 650,000 SNPs 32,500 are erroneous?! That seems ridiculously high especially if those SNPs are for disease variant alleles | |
Jul 30, 2019 at 5:42 | history | answered | Maximilian Press | CC BY-SA 4.0 |