Search Results for: 23andme basic

How to find your haplogroup and why do that?

Aug18

Haplogroups fascinate me because they reveal our deepest ancestry. A haplogroup is a way of assigning a portion of your DNA to a category based on areas of very slowly changing markers. There are two types of DNA that can be assigned haplogroups, because they do not recombine therefore change only slowly via mutations. These are the Y chromosome and the DNA of your mitochondria (mtDNA), which are separate organisms in every cell that provide us with energy and are passed along via a mother’s egg. The groupings for their haplogroups look like family trees when charted, for example the one shown below from Eupedia. That is because each mutation creates a new branch. There are haplogroups assigned for both the all female line (mtDNA) and the all male line (Y). Click here for Eupedia’s wonderful descriptions of all the haplogroups found in Europe.

The female H haplogroup from Eupedia.com on haplogroups

Men have a Y chromosome, which makes them male, which has been passed from father to son, to his son, to his son, and so forth from from time immemorial. We all have mitochondrial DNA (mtDNA ) which is passed from a mother to all her children unchanged. Thus your mtDNA is from your mother’s mother ‘s mother and so on. Both of those parts of DNA inheritance can be traced back to the dawn of humanity. That is unlike the other chromosomes which mix the inheritance from each parent such that after several generations there may be little or no trace of our deeper ancestors. Most of us have no verifiable autosomal DNA from before our 5th grandparents.

Those of you who have family legends about descent from an Indian princess might be able to prove the connection using mtDNA if there is a direct female line to that ancestor, since there are specific haplogroups for Native Americans (click here for the wikipedia article on that).

My Ancestral Haplogroups displayed in Paul Hawthorne’s colorful genealogy chart

One thing that I like to do is figure out the haplogroups of my recent ancestors by testing cousins in the needed line of descent. I made a chart of the ones I know using Paul Hawthorne’s colorful genealogy chart (click here for more about that) with the haplogroups added. As you can see, I have many more lines to chase down. Sadly my Thannhauser Bavarian Jewish line daughtered out, so I am trying to find a male descendant of the one who moved to Albany NY in the mid 1800s.

So how do you find your haplogroup from your DNA test? Well if you tested at 23andme or Living DNA then you will be provided with your high level haplogroup. However if you want to drill down the branches, then test your Y and/or your mtDNA at Family Tree DNA (summer sale until end of August). Ancestry tests enough SNPs to get a high level haplogroup by using other tools on your raw data. My Why Y blog post explains how to use the Morley tool but there is also a tool to find Y haplogroups from Borland Genetics. I have been trying to convince Kevin Borland to write one for mtDNA since the James Lick mthap tool will not currently take ancestry data.

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Why Y?

Jun15

Father’s day is always an occasion for the DNA testing companies to offer discounts on their kits and this year is no different. Give Dad a DNA kit is the message. Why should you? Well his autosomal DNA might find cousins you had lost track of, discover ethnicity you were curious about, or solve an unknown parent mystery. After all, he is one generation closer to your ancestors. I tested my late father long ago and am grateful to have that information. Click here for my evaluations of the different autosomal testing companies.

Dad and I in about 1953 (he was in the Air Force)

Only men have a Y chromosome and there are tests for just the Y. Those tests can give you information about your surname and your deep father line ancestry. Family Tree DNA is the place to test just the Y although both LivingDNA and 23andme will give you a high level Y haplogroup, plus there are tools to determine the haplogroup from an AncestryDNA or MyHeritage test (discussed at the end of this post).

If you know what a Y haplogroup is you can skip this paragraph … The 23rd pair of chromosomes is an XX for a woman and an XY for a man. The problem or benefit is that there is no second Y for that Y to recombine with. Thus unlike the other 22 chromosomes a man’s parents give him, the Y is unchanged from his Dad’s and his Dad’s and his Dad’s and so on, except for mutations. Those little changes accumulate over thousands of years and allow scientists to catalog the Y and trace the migration of mankind around the globe. Each set of Y mutations is assigned to a haplogroup, and subgroup, which can tell you where your ancestors came from thousands of years back. Here is the latest diagram from the
wikipedia article on Y

Y haplogroup world expansion – start at the big Y in Africa (A was the first haplogroup) -image from wikipedia by Maulucioni [CC BY 3.0 (https://creativecommons.org/licenses/by/3.0)]

If you are of European origin then click here for the Eupedia articles on each haplogroup.

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Time to move to GENESIS!

Dec20

At my recent GEDmatch talk for i4GG, I warned the crowd that soon Genesis would be the only place at GEDmatch where you could upload new DNA kits. Well that day has actually come! Although your kits will migrate from GEDmatch, you may want to upload to Genesis if you cannot wait to see the comparisons. By the way, your GEDmatch login will work just fine at Genesis. Note that Genesis has the GEDmatch logo with an apple core next to it.

So why do you have to move to GENESIS? The problem is that some companies are using newer chips which test for different not completely overlapping markers: LivingDNA and 23andMe since August 2017. Why you may ask? Because the new chips test more SNPs and have more non-European ethnic coverage.

So how do you compare apples to oranges? Well Genesis seems to do a good job of it and the new one-to-many warns you when there are not enough SNPs in common for confidence in the results by highlighting in red. Have a look:

Notice that the last three columns are new. One shows how many SNPs overlap between the kits (in other words, how many SNPs are in common between the two sets of test results so can be compared), the next shows the date compared, and finally the company where the test was done is listed. The latter is needed because kits uploaded directly to GENESIS get assigned kit ids that start with a pair of random letters so the origin is not known from that. Note that migrated kits keep the A,T,M, and H single letters. Also many recently migrated kits will show an overlap of 0 because that has not yet been compared for them.

You may also notice that many columns are missing like haplogroups, gedcoms, and X matching; nor are the columns sortable. Hopefully these features will be added back soon. The display is more compact with the confusing clickable L replaced by clicking on a kit number to see its list of one to many matches. By the way the Tier 1 version of the one-to-many looks exactly the same as the one on GEDmatch.

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Getting Started with GEDmatch

Jun23

UPDATE 18-AUG-2019: Although many of the concepts in this post are good to know and the ethnicity calculators are not changed. The GEDMATCH site has had a facelist and hes been replaced by what was previously called the GENESIS site. So better to read the following posts:

 

If you and a relative have tested your DNA at different companies, you can compare your results at a free third party site – GEDmatch.com – which also has many additional, useful tools for analyzing your DNA and looking at match lists. Learning to use those tools may take some time as they are not intuitive, so I am writing this post to help a friend, Barbara, start to use them.

The GEDmatch site can be intimidating for the less computer savvy. Like most any place on the web, you have to register by creating a username (your email) and password . Click here for more details on registering in my GEDmatch Basics presentation starting on slide 2. Please do not be put off by the extensive new Terms of Service you have to agree to. GEDmatch has to meet the current EU requirements plus they need to warn you that your DNA could be used to identify a victim or catch a criminal among your relatives.

Once you have a username and password and log in, you are presented with a home page which, again, is not very user friendly. The first task, which we already did Barbara, is to upload your DNA test data. Start with this slide https://slides.com/kittycooper/gedmatch-10-13#/9 for the details of how to upload and manage your DNA results, known as kits, to GEDmatch.

The image to the left shows the big blue box, called “Analyze Your Data,” which you can find on the right side of your GEDmatch home page. I have put a red box line around the functions that I find the most useful. One of the first things I do for a newly uploaded kit is check if the parents are related (yours were not Barbara, nor Martin’s).

Once your kit is uploaded, it still has to be “tokenized” which you can think of as being put into chunks for the template they use for comparisons; this can take 24 hours or so. While you wait to be able to use your kit to look for matches, you can play with the ethnicity tools. Please remember that figuring out the groups you descend from is a science still in its infancy and far from accurate yet, other than in the broad strokes.

Start with Admixture (heritage). For most Europeans, the Eurogenes calculator is best and the default K13 is fine, but for those of us with mainly Northern European ancestors, K12 is better. I have a whole presentation on just these calculators at https://slides.com/kittycooper/gedmatch#/

Although its creator has disavowed the Eurogenes Jtest calculator for listing your Jewish percentage (click here for his article), I find that if you add up all the obvious ethnicities: Ashkenazi, Western_Med, Eastern_Med, West_Asian, and Middle_Eastern, it is not that far off. The Jtest image above is from Martin, the only person I have ever seen AncestryDNA call 100% European Jewish; most of my jewish friends come out between 87% and 98% there.

Click here for the creator, Davidski’s Eurogenes blog posts on Gedmatch. Two important take-aways for me are that his ancestral clusters are much further back than the main companies and any ethnicity of 1% or smaller is likely noise.

Once your kit has tokenized, you can start using the most important tool, the One-to-many compare function which will compare your kit to all the kits in the database and then list your closest DNA relatives.

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MTHFR – hype or a problem?

Jun12

There have been so many claims in the alternate medicine arena about health problems caused by variations in the MTHFR gene that I was not surprised to get this request from a favorite cousin:

Could you please check to see if there is information in my Ancestry test that tells you whether I have a bad version of the MTHFR gene?

Like many genes, the MTHFR is made up of a long DNA chain including many SNPs (Single-nucleotide polymorphisms), pronounced “snip.” SNPs are places where a single letter in the DNA code often changes to another letter. Since these can vary from one person to another they are useful for figuring out ethnicity. However some variations can have health effects. Typically you would need more than one variation to greatly increase your risks of specific diseases, but not always.

MTHFR location on chromosome 1 from the NIH page about it

So what does the MTHFR gene do? It has the instructions for making an enzyme critical to turning the amino acid homocysteine to another amino acid, methionine, a building block for making proteins. That is a simplification; click here for the full explanation from the National Library of Medicine (NIH).

One health condition, known as homocystinuria, causing blood homocysteine levels to be too high, is caused by variations in this gene. However that can easily be addressed with certain vitamin B supplements. Geneticist Charis Eng discusses why a DNA test is not needed to diagnose or treat this at https://health.clevelandclinic.org/a-genetic-test-you-dont-need/

Selection Panel on right at Promethease

The genetic cause is not simple, according to the NIH at https://ghr.nlm.nih.gov/gene/MTHFR#conditions – “At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly.”

So can I answer my cousin’s question? There are several SNPs in the MTHR that have been intensely studied, maybe these were tested in her Ancestry.com test.

My advice to her was to upload to Promethease.com which will analyze this nicely for her. When you look at the report, type MTHFR in the box labeled Genes (outlined in red in my image here) and let it tell you your risks.

Of course I still had to figure out whether I could find the most interesting MTHFR SNPs in the raw results. If they are not there, then Promethease will not be much use.

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