Saturday, June 28, 2014

Overcoming DNA test errors.

I'm investigating my assumptions here and will follow up soon.

I recently learned sequencing machines have a 1% error rate.  That means out of the 700,000 or so identified SNPs in the Ancestry.com DNA tests about 7,000 of them are incorrectly identified unless the testers have taken steps to validate inconsistencies or the published error rates are out of date.  Even a .01% error rate would be 70 errors or just under 2 per chromosome.

Right now the tested people have no way to challenge and get obvious errors corrected.  It calls into question my supposition about how moderate, low, and very low confidence levels are determined.  I may have to actually look at my sister's and parents' DNA results.

On some of the matches with hints, meaning both tested individuals are identified in trees and both trees mention the same individual as an ancestor of the tested individual in the tree,  the confidence levels for my sister and I are higher than for my mother.  That doesn't make sense since my relationship to my cousins passes through one of my parents so the confidence level for mother should never be lower than mine once we're looking at a single chromosome to identify an individual as a cousin.

While there is a non-zero probability that my sister and I would share exactly the same mutation that undoes a mutation away from the ancestor's sequence it's much more likely our mom's DNA test has a sequencing error and the SNP is misidentified in her test.

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