2. ySTR upgrades
3. ySNP tests
4. Geno2 tests
5. NGS tests, incl. BigY
6. Autosomal tests, incl. Family Finder
7. Mitochondrial tests
8. Other DNA tests
9. General Fund
This section identifies the many DNA test that can be taken after the initial ySTR test and offers recommendations on their suitability, depending on the individual participant's circumstances. Which test, if any, is most appropriate depends on:
- the results of your first test: how many "matches" you have, which gentic family you are in, how well that family has been analysed etc.;
- your personal interests, both in your own ancestry and in supporting our Study; and
- financial considerations!
1. General comments on further testing
1.1 Once a participant has taken his initial ySTR test and digested the results many are tempted to take further tests. There are now a very large number of tests to choose from, and much money can be wasted by choosing inappropriate tests, money that could often be spent better in the interests of the individual and/or of the Study. As the optimal choice of a further test, if any, depends on individual circumstances (i.e. financial considerations, areas of interest, and the context of the initial/earlier test other genetic and genealogical evidence) I strongly recommend individuals seek my advice before ordering any further test. Obviously I cannot advise on how much you may wish to spend, or indeed on what your interests and goals should be, but I can explain why many tests may be inappropriate to your circumstances, and which further test would best help our Study.
1.2 The saliva samples sent to FTDNA by a participant for his initial STR test are kept for 25 years, and may be used for further tests. How much saliva is used for each test depends on a number of factors, including the quality of the saliva, the sophistication of each test the sample is used for, and whether a pparticular test has to be re-run for some reason. It is thus not possible to predict how many tests the initial samples can be used for. If FTDNA need more saliva they will ask, and the only cost is postage. Otherwise there is no postal charge for further FTDNA tests.
1.3 To order a further test from FTDNA go to your personal webpage/account and click "Upgrade" and select the test you want; for individual and Pack SNP tests go to "Advanced Tests - Buy Now". See below for advice on FTDNA's "health" warning that a Pack test may not be relevant to you.
1.4 Results of FTDNA's tests normally take 4-6 weeks from the time of ordering/receipt of sample, but occasionally 3 weeks and sometimes 8 weeks or more if a test has to be re-run for some reason or there a back-log has built up for some reason.
1.5 The funding of tests may be facilitated by the ‘Clan Irwin Surname DNA Study General Fund’ - see below.
1.6 In the past FTDNA have offered short-duration Summer and Christmas sales of various products, which obviously offer better value-for-money, though their scope is limited and their dates unpredictable.
2. ySTR upgrades
FTDNA no longer offer single STR marker tests, but do offer the following STR upgrades:
- 12 to 37 markers at $ 99
- 25 to 37 markers at $ 59
- 37 to 67 markers at $ 99
- 67 to 111 markers at $129
YSeq, another reputable testing company, also offer single marker STR tests, e.g. DYS617 for $9.95 plus shipping fee, but of course they need their own saliva sample.
For participants who do not have 37 markers I recommend upgrading to 37 markers.
For participants who have 37 markers I have never recommended upgrades to 67 or 111 markers, because I do not regard them as value for money until our Study shows they can be of more use. This is particularly true when no other member of your genetic family or sub-group has yet tested for the upgrade being contemplated.
Except for participants who have taken a BigY test, I now recommend the appropriate SNP Pack test (see below) as being much better value than upgrading to 67 or 111 markers.
(1) for those who have already upgraded to 67 or 111 markers, this is not money wasted, for one day the value of these tests will probably become more apparent;
(2) for those who have taken a BigY test, YFull do include a 111 marker anlysis, though FTDNA do not consider this reliable; and
(3) for those Border Irwins who have taken a BigY or L555 SNP Pack test, and particularly those who have a "?" or "*" result, they may wish to consider upgrading to 111 markers to help our understanding of how groups of high resolution STRs may help in further refining on our L555 haplotree. For those interested please consult th eStudy Administrator.
3. ySNP tests
As an intial test I still recommend the 37 marker STR test, as this is usually sufficient to identify which gentic family a testee is descnded from and for FTDNA to give a "predicted haplogroup" (see below). Higher resolution ySTR tests are still popular with some, but ySNP Pack tests (see below and Supplementary Paper 5), have the following advantages over STR tests:
- they do not suffer from "Convergence", caused by back mutations and parallel mutations of marker counts, which downgrade the reliability of all STR data;
- the test results are binary (i.e. yes/no, or +/-), as opposed to probablistic;
- the mutations of SNP data are much more stable than those of STR data, further improving reliability, not least for "finding cousins";
- SNPs fit on a "haplotree", effectively a "top-down" gentic family tree.
FTDNA no longer offer their old "Deep Clade" or "Walk the Y" SNP tests, but do offer two other types of SNP test:
3.1 Single SNP tests at $ 39 each. These are useful to confirm a particular predicted SNP, but become expesive if used for "fishing" for a downstream SNP. To order a single SNP test from FTDNA go to your personal FTDNA page > Upgrade > Advanced Tests Buy now" and then click "SNP tests", then after "Marker" enter the name of the SNP required, and then "Find". Incidentally YSeq, another company, offer single SNP tests for $17.50, plus shipping, but of course they need a new saliva sample.
3.2 SNP Pack tests at typically $119. For list of SNP Pack tests currently available from FTDNA, go to your personal FTDNA page > Upgrade > Advanced Tests Buy now" and then click "SNP Panel tests" and "Find", leaving the box between blank. To see the SNPs included in a particular SNP Pack test click on the test name.
The list of SNP Pack tests includes two levels of SNP pack test, "Upstream" and "Downsreeam":
Upstream pack tests: these tests, some named "backbone" tests, can be chosen on the basis of FTDNA's "Predicted haplogroup" ("hg") for each testee . Upstream pack tests relevant to participants who are not members of the Borders gentic family include hg I1: pack test M253; hg I2: pack test M223; hg J1: pack test M267; hg J2: pack test M67; hg R1a: pack test "backbone"; hg R1b: M343/269.
Downstream pack tests can be chosen when mid-level SNPs have been identified, typically by an upstream SNP test, for example within R1b there are downstream tests for the sub-clades DF21, L513, L555, M222, U106 and U152.
3.2.1 The L555 Pack test This test was designed specifically for our Study, on the basis of our first 12 L555 BigY test results. It was introduced in April 2016, and tests 86 SNPs (all "brothers" of L555 or downstream of L555), which works out at just $1.40 per SNP tested.
For most participants who are members of the Borders gentic family I recommend the new L555 Pack test. This will determine from which branch of the L555 haplotree they are descended, and be a much better guide than the old subgroupings as an indicator of which other Border Irwin participants they are likely to be closely related to.
Exceptions are: - those who have already taken, or are contemplating a BigY test (for reasons see Supplementary Paper No.5);
- those who have already taken a single SNP test that has determined their SNPs downstream of L555 (e.g. a single BY3666 SNP test);
- those who are closely related to a participant who has already taken a BigY or L555 Pack test.
- those who do have a 24 generation TiP Score of less than 80%.
NB 1. Those who have taken a BigY test should NOT take a Pack test - you will learn nothing new.
2. Those who have taken the single L555 SNP test are now recommended to take the L555 Pack test.
3. I used to recommend the single L555 SNP test for participants with surnames dissimilar to Irwin whose STRs are close matches with the Border Irwin modal STR signature, but I now recommend they take the L555 SNP Pack test as they are almost certain to test L555+ and the Pack test is better value for money.
To order a Pack Test go to your personal FTDNA account page > "Upgrade" > "Advanced Tests - Buy now", and then under "Test Type" select > "SNP Test" and scroll down to "R1b-L555 SNP Pack" (or other SNP Pack test if required), click "Add" and then "Order Now". As I am confident members of all members of Borders group with a TiP of over 80% are L555+, these individuals can ignore FTDNA's "health" warning that reads: “Kit ….. does not meet the prerequisites for …… SNP Pack. The sample provided may not test positive for any of the SNPs in this panel. If it does not test positive, you will not be able to receive a refund. Do you still want to purchase this product?” This warning is a clumsy deterrant to stop BigY testees from taking an unnecessary test, or from taking inappropriate Pack test. But if in doubt I am happy to advise.
NB Be careful not to order the single L555 SNP test by mistake instead of the L555 SNP Pack test!
For more details see Supplementary Paper 5.
4. Geno2 tests
National Geneographic's powerful Geno2 test will identify "known" SNPs, e,g. down to L555, and results can be transferred to FTDNA's database, but at $199.95. I do not recommend this test.
5. Next Generation Sequence ("NGS") tests (for more details see Supplementary Paper 5)
These powerful tests identify "new" SNPs but are very bulky (downloading about 10Gb data from a single test is a complex procedure) and expensive.
5.1 FTDNA's BigY test at $595 is the most popular. To order go to your personal FTDNA account page < "Upgrade" < "Advanced Tests - Buy now", and then under "Test Type" select < BigY < Learn more < Order now.
FTDNA's resulting haplotree based on the SNPs discovered by the test is now good, but their Match, .csv and .vcf files are poor, and the BAM file, though excellent in quality, is difficult to process and analyse.
We have had some excellent BigY tests by participants representing most of the L555 sons and so I now only recommend BigY tests for:
- Border Irwins whose SNPs have been detected but not identified by L555 Pack tests (i.e. have a "?" on the L555 halpotree);
- other Irwins who match participants who have already taken a BigY test, or who match participants in relevant haplogroup projects who have already taekn a BigY test. For these I also recommend YFull's $49 Analysis package as I am unable to interpret these results.
5.2 FGC's Elite tests. These have a grearter coverage than BigY but are more expensive and for the present at least do not appear to add further insight to our Borders genetic family.
These NGS recommendations may change as these tests cover about 400 STRs, albeit on a probablistic basis and FTDNA is not (yet?) releasing this data.
6. Autosomal tests
These tests, suitable for both males and females, can identify cousinship up to about 4th cousins, through both paternal and maternal ancestry - provided of course the cousin has also taken a similar test with the same testing company. But apart from identifying, on a probabilistic basis, the degree of cousinship, the test does not identify any of the intervening relatives.
FTDNA do their Family Finder autosomal test at $79 for participants in this Study, and for the Irvine Clan Autosomal Project whose administrator is Rev. Peter B Irvine is the Administrator - see https://www.familytreedna.com/groups/irvine-clan/about. Results cannot be posted on-line for confidentiality reasons. I recommend Family Finder to those so interested if they live in USA; the coverage of this test outside USA is still poor and so unless two suspected cousins both test. I do not recommend it for those who live outside USA. To date about 20% of this Study's participants have ordered this test.
23andMe do a similar test for $149 plus shipping; they have a larger database, but again mainly US focussed.
7. Mitochondrial ("mt") DNA tests
FTDNA offer this test for $79. It only relates to maternal ancestry – your mother’s mother’ mother's mother ..... To date less than 15% of the Study’s participants have taken these tests. The results of these tests are of no significance to other participants in our Study. I do not recommend this test.
8. Other DNA tests
FTDNA and other companies offer other DNA tests but I do not recommend any of them.
9. General Fund
The ‘Clan Irwin Surname DNA Study General Fund’ has been established in conjunction with FTDNA to help facilitate a number of contingencies:
- funding of initial STR tests of non-participant Irwins (or similar spelling) whose genealogies or place of residence (e.g. Ayrshire, Belfast, Eskdale, Netherlands or Germany) suggest their DNA is likely to be of interest to our Study, e.g. when these potential participants are unable or unwilling to fund all or part of their test themsleves;
- funding of upgrades of tests of existing participants who feel unable or unwilling to fund part or all of the test themselves (e.g. L555 SNP Pack tests for Border Irwins);
- to receive and hold donations for application to the above contingencies, either specifically or generally; several participants have very kindly made donations which have helped considerably towards the achievement of our Study's Goals.
Many donations are made anonymously, and their application left to the discretion of the Study Administrator who is aware of potential tests which would advance the Goals of our Study. But donors may instead elect for their donation to be recorded in their name, or in memory of a family member. They may also state the purpose (within our Goals) for which they wish the donation to be used.
The Fund is held by FTDNA. Donations may be made by credit card, PayPal or cheque. To make a donation please contact the Study Administrator or see http://www.familytreedna.com/group-general-fund-contribution.aspx?g=IrwinClan
All contributions will be acknowledged, and very much appreciated.