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Old 04-04-2013, 02:06 PM   #2
Senior Member
Location: UK

Join Date: Jan 2010
Posts: 390

I like the fact you assume it was your sequencing provider that mixed up the sequences, and not your lab that mixed up the samples

I'm only joking, because I'm sure you've gone back and genotyped what you've sent and had your provider genotype the aliquots you sent them but I've had to deal with many situations where we have been sent samples (or data) that is not what the originator claims, at any point in the process where a human is involved there exists the possibility for sample mix up.

I think the only answer from the lab side is automation. You could have a genotyping panel run on samples as they come in, and checked against e.g. exome results on the way out. It would be great to have some kind of sample barcoding that is applied before capture and library prep is carried out that can be assayed later (I'm a bioinformatician, not running the machines, so no idea how feasible this is).

Far too often sample mix ups only present on analysis. My favourite, as it is the easiest to pick up and rectify is the trio's where a parent has been swapped for a child.
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