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Archiver > GENEALOGY-DNA > 2010-03 > 1269956684


From:
Subject: Re: [DNA] Need Help In Understanding and Using the Term "SNP"
Date: Tue, 30 Mar 2010 09:50:26 EDT


Ian Logan's site is more useful than mtDB for checking whether a mutation
has been observed in FGS data. You can save the source code for his Checker
lists and use a text editor to search for a mutation.

http://www.ianlogan.co.uk/checker/genbank.htm

Some interesting (to me) stats:

There were 6 completely novel coding region mutations in the most recent 25
custom reports I wrote for people with FGS results. There are many more
cases where a mutation was observed for the first time within a haplogroup
subclade.

Even the HVR region has plenty of scope for novel mutations. The
Genographic Project has over 50,000 HVR1 results in its most recently published
database. Of the 569 bases, there are 225 with no instances of a mutation (almost
40%).


https://genographic.nationalgeographic.com/staticfiles/genographic/StaticFiles/ProjectUpdates/PublicParticipation.zip

Ann Turner

In a message dated 3/30/2010 6:02:35 AM Pacific Daylight Time,
writes:

> It seems to me that the SNP concept is more useful in Y-DNA than mtDNA.
> Finding a new Y SNP may be a cause for celebration. FTDNA starts selling it;
> trees have to radically revised. But in mtDNA hardly a week goes by that I
> don't see some coding-region mutation which I've never seen, at least in
> K. Sometimes I look them up on the mtDB database and they are not listed.
> (Unfortunately, that database is not being updated and is getting less and
> less useful.)


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