Archiver > GENEALOGY-DNA > 2010-03 > 1268715395

From: "Nick n Dale" <>
Subject: [DNA] Usefulness of SNP tests
Date: Tue, 16 Mar 2010 15:56:35 +1100

I am trying to convince myself of the value of massive SNP tests like that offered by 23andMe. Their Complete test covers both genealogy and health areas.
Am I wrong in thinking that detecting latent defective genes (ie as a carrier) is a very hit & miss affair? I opened a free account and browsed the chromosomes of the "Mendel" family and found that the number of SNPs offered for a particular gene is a long way short of the constituent nucleotide pairs (possible mutations). A lot were in introns, not that that necessarily rules out an effect on protein functionality. I know that some mutations are concentrated on one locus (eg Cystic Fibrosis CFTR-~70% in Caucasians), but what about the other 30%, not to mention the other genes where mutations are spread more evenly. Surely sequencing is the way to go to get complete coverage? I did have to do a lot of manual searching elsewhere like the NCBI databases to find out what each SNP was about--is the information more accessible at 23andMe once you've paid your money and get the results back?

Sorry about that first bit. I realise it's a bit off topic in a genealogy list. But in order to be able to browse raw results one has to get the Complete test not just the Ancestry part. Also I am wondering about the usefulness of getting Complete tests for my wife and 2 sons. Would it be possible to piece together chunks of the genome and sort out all our chromosomes?


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