Big Changes to YFull

On October 9, I posted the Big Y Update from Family Tree DNA. The announcement stated that FTDNA was updating all Big Y results from the older human genome reference sequence, hg19, to the most recent and more accurate reference hg38. This means that YFull, which interprets Big Y results, would have to include references to both hg19 and hg38 and be ready to process new tests mapped to hg38.

A few days later, on October 13, I wrote What are the benefits of YFull? Since then, YFull not only has added the hg38 conversion, but has added more tools to make their interpretation service more valuable. A lot has happened in less than two weeks!

Understanding Next Generation Sequencing

In order to best take advantage of the new enhancements, it is helpful to understand a little about how Next Generation Sequencing tests, like the Big Y, are processed. As you may remember, your DNA consists of two strands of DNA coiled into a double helix. The strands run in opposite directions.  One is called the forward strand, and the other is the reverse strand. The strands are connected by base pairs (bp) which are the As, Cs, Gs, and Ts that form your DNA sequence. All of these can be numbered to show their position on the chromosome.

During the testing process, your DNA is not read in one continuous stretch. Instead, your DNA is broken into random fragments. The test then reads these fragments from each end. Some fragments are read many more times than others. For example, one of your fragments may have been read two times, and another 56 times. Unfortunately, not all of the reads may give the same result. So a fragment that was read consistently 92 times will be reported as a high quality SNP, while one read five times with different results will be considered to be a much less reliable SNP. We will examine one of these "low quality" SNPs below.

After all the fragments are read, they must be reassembled, mapped to the human genome reference sequence, and given a precise location. Differences between your DNA results and the reference sequence are then reported. The human genome reference sequence is continually improving. Big Y results were formerly compared against the human genome reference sequence known as hg19 which was Build 37. They are now compared against hg38 (Build 38), and many of the position numbers have changed.

So let's put this basic knowledge into practice.

Updates to YFull

In my October 13 blog post What are the benefits of Yfull? I showed the following image of Novel SNPs from my YFull results:

Less than two weeks later, the same page looked like this:

If we compare the new version of my Novel SNPs screen to the previous version above, you will notice that the first line which contained position 7285772 now says 7285772 - 7417731 Hg38.  Next, you see a blue BAM icon at the far right of every line, and finally, on the sixth line you now see an orange check mark next to the letter G.

hg19 and hg38

The new screen shows both hg19 and hg38 positions. The first number is the hg19 position, and the second is the hg38 position. Even though the hg38 positions are shown, this does not mean that my results were mapped to hg38. We will see later how we can tell that my results are mapped to hg19. However, YFull will be accepting new FTDNA hg38 results.  .

Browse Raw Data

On the right of the Novel SNP screen are blue BAM links so that I can view any of these positions in my BAM file. I will be examining one of my low quality SNPs. We are now viewing the "Low qual" tab. I want to see why the second line in the image below (position 23096690) is considered to be low quality.

Before we use the BAM link, start by clicking the magnifier button at the left of position 23096690. The yellow magnifier is a link to view information about that position in a tabular format. It is the identical information that is obtained from the "Browse raw data" link in the gray menu on the left of the screen.

Here is what you see when you click the yellow magnifier or the Browse raw data link.

In the table above, after the chromosome positions you find a line for "Reads." Here the Reads are reported as 5. This means that Position 23096690 was read five times in my Big Y test. The next line is Position data: 4T, 1G which tells us that four of the reads indicated that I had a T in this position, and one read indicated that I had a G. This gives me a probability of error of .28 which is why this SNP is considered to be low quality.

The next two lines give very important information. My Sample allele was a T in this position (this is called the derived value). The Reference allele (hg 19) was a G, so at position 23096690 the human genome reference sequence had a G (which is called the ancestral value). The Reference (hg19) allele also indicates that my sample was previously mapped to the old hg19 reference, not to the new hg38 reference.

Using the BAM browser

Now, knowing the information from the Browse raw data table, let's click on the new BAM link to view this information in a Y-chromosome browser.

You will be brought to the Y-chromosome browser screen below:

At the top of the screen you will see the range of base pairs shown in your browser.  Here the range is from base pair (bp) 23096615 - 23096765. My SNP 23096690 will be shown within this 150 bp range. After the SNP positions is a list of browser styles: compact, 1, 2, 3, 4, 5, and 6.  You are seeing the compact version on this first screen. This compact style doesn't seem to be very informative unless you remember that Y Full always uses the color green for A, blue for C, orange for G, and red for T.  So you don't even need to see the letters to know that I matched the reference sequence except for a few calls for T where the ancestral value was G.

After seeing the compact version of the SNP browser, we will click on each style to see the differences.  Here is Style 1:

Style 2 is much more informative showing the five forward and reverse strands. Family Tree DNA in its new Y-chromosome browser color codes the forward and reverse strands.  YFull uses capital letters or lower case letters on each strand to distinguish between forward and reverse. Remember that in the Browse raw data table above, the position 23096690 had five reads--four were T (derived) and one was G (ancestral). Here you see five lines representing the five times that position 23096690 was read. The four derived Ts are highlighted in yellow.

Style 3 is similar to style 2 with the four Ts again highlighted in yellow.

Style 4 very dramatically shows where my test result differed from the reference sequence.

Style 5 is an enlarged image of the compact version style.

In Style 6 it is very difficult to find where my results differ from the reference sequence.  I might only use this if I were to conduct a "Find the SNP" contest with someone!

Here is Style 6 again with the arrow pointing to the column where my four Ts are different from the one ancestral G.

I find only Styles 2, 3, and 4 to be useful to me, but it's all a matter of preference.

The little check mark is big news

Now that we've seen the new Hg38 reference additions and examined a SNP in the new BAM Y-chromosome browsers, let's see the final addition which is the tiny orange check mark. This could be easily ignored, but it may be the most exciting change of all. If we click the orange check mark we can see that this SNP has been tested by Sanger sequencing at YSeq. Sanger sequencing is a method by which we can verify the validity of a SNP. YSeq is a company that will conduct Sanger sequencing on your SNPs at a reasonable cost. One person was tested for this SNP at YSeq, but his result was negative (meaning he has the ancestral value at this position).

On the Anthrogenica forum, user REWM posted the following image:

Instead of an orange check mark, this one is green. This SNP has also been verified by YSeq using Sanger sequencing, but in this case nine people were tested for the SNP.  Two of them were positive meaning they had a derived value in this position. The green check mark indicates that a SNP has been found in this position using Sanger sequencing.

These new SNP verification notices are wonderful news because we can now prove whether any of our questionable SNPs are valid and show the results on YFull. Many ambiguous quality and low quality SNPs have been proven to be genuine SNPs with Sanger sequencing. Here's how to take full advantage of this:

• Submit your novel SNPs (including any of your best, acceptable, ambiguous, and low quality SNPs) to YSeq through their Wish a SNP program. Use the hg38 position numbers. It will cost you one dollar per SNP. 
• YSeq will let you know whether each SNP qualifies for Sanger Sequencing, and if so, they will make all qualifying SNPs available for testing. If you want to test several SNPs, you can then design your own SNP panel through "Wish a Panel" to bring the cost down.
• Order your test and submit a DNA sample to YSeq to verify any of your SNPs. 
• In addition to receiving your results from YSeq, the validation will then appear on YFull.  

Thomas Krahn of YSeq has stated that YSeq and YFull are examining ways to better integrate their systems.  This means there are a lot more changes in store!

Consider submitting your BAM file to YFull

I have heard some people say that you don't "need" to submit your results to YFull because you can get good interpretations from other services including haplogroup administrators. This is true, you don't "need" to submit your results to anybody. But YFull's services are hard to beat, and they just keep getting better. YFull has many useful tools including SNP dating, reporting of about 500 STRs, and more. I examined a few of these in What are the benefits of YFull? In addition, many scientific studies rely on information obtained by consulting YFull. One of the many reasons I submit results to YFull is that if scientists want to discover more about my general branch of the human Y tree, I want my specific branch to be a part of it.

As more test results are submitted to the database, the interpretations are getting even better. Please consider submitting your results, too.


Update: See Great updates to YFull

Breakthrough! Fabulous new tool for FTDNA Family Finder

Why test with Family Tree DNA?

I am an absolute freak about DNA testing. I test every family member I can because I have been doing family history for decades, and I can finally prove or disprove my genealogical research with DNA. Best of all, I can use DNA to find ancestors when no documentation exists to prove the relationship. Sometimes it takes more than one kind of test to do this, and I know that in the future DNA tests will be even better than they are today. Therefore, I need a DNA testing company that offers more than one kind of test and one that will store my DNA samples for future testing. Family Tree DNA is the only company that does this. Family Tree DNA offers Y-DNA, mitochondrial DNA, and autosomal DNA (the Family Finder test). FTDNA guarantees that they will store your DNA sample, unless you tell them not to, and you can conduct more tests in the future with the same sample. So no matter what other DNA testing companies I use [and I use them all!] I always submit a DNA kit to Family Tree DNA.  I have so many kits there I have a database to keep track of all of them.

Today we will examine the Family Finder test and the new tool that actually made me cry when I used it because I got so emotionally excited. I have one more reason to test with Family Tree DNA.

Autosomal DNA and chromosome browsers

We all know that we received 50 % of our mother's DNA and 50% of our father's DNA. Our siblings also inherited 50% of each, but not the same 50% unless we are identical twins. My father is deceased, but my mother is alive. If I only tested myself, then the 50% of my dad's DNA that I did not inherit would be lost forever. Luckily I have three siblings, so I can reconstruct a large proportion of my father's DNA by comparing all of our DNA to our mother's.

Family Tree DNA offers a chromosome browser so that you can compare your Family Finder results with other people's and see exactly where your common DNA is. Here's the problem. There are 23 lines in the chromosome browser; one for each of your 23 chromosomes. But we have 23 pairs of chromosomes. Take a look at this chromosome browser comparison of my mother and me:

The orange shows where we have matching DNA. It looks like I inherited ALL of my DNA from her! Look at my mother and her sister:

In the image above, the orange shows where they have inherited identical DNA segments. The black shows the segments where they didn't inherit the same DNA from either of their parents. That illustrates why it's so important to test siblings. However, in any orange segment you can't tell whether DNA was inherited from their father, mother, or both. Now look at the same comparison from 23andMe:

You can clearly see where my mother and her sister inherited the same segment (light blue) from one of their parents, where they inherited identical segments from both parents (dark blue), and where they inherited different segments from both parents (white). However, you still don't know which DNA segment was inherited from the mother or the father.

This is the problem with all of our autosomal DNA matching. When we see that a DNA segment is shared between two people, we cannot know for sure if that segment is shared from our mother's side of the family or our father's. So let's try to prove an ancestral connection and see if we can solve this problem.

Solving female ancestry with autosomal DNA

I love solving problems with Y-DNA, but it's for male lines. This time I want to smash a brick wall about women, so I'll use autosomal DNA. One of my most nagging problems was finding the family of my great-great-grandmother whose maiden name was Martha Gay. Nobody in the family knew anything about her parents. Martha is shown sitting front center in this photo. Her daughter, my great-grandmother Margaret George, is standing at the far right. The other two women are daughters-in-law.

I want to find Martha's family, but she did not make this easy on me!  Her marriage record to Charles George says her name was Martha Copeland, but this is her second marriage so Copeland is not her maiden name. She appeared in census records where a different birth place was shown in each one: Arkansas, Georgia, and Tennessee, and, of course, her age wasn't consistent.

Her death certificate didn't help either.

So here I am with a woman named Martha Gay (if the maiden surname is correct), born somewhere in the Southern United States. I didn't know if she ever had any brothers or sisters. It took me a very long time to narrow it down and decide that she was born in 1850 in Elbert County, Georgia, and that her father was James Gay and her mother's name was Eliza Hendrick (Hendricks, Hendrix). Oh sure, this is all I do, so I'm pretty good at it. But obviously I could have made a wrong conclusion. Now I want to prove this with DNA. Since I'm doing a woman's story I want to confirm that Eliza Hendrick was my third-great-grandmother.

My mother has a second cousin who is descended from Charles and Martha (Gay?) George.

This is the comparison of my mother to her second cousin:

This is just a general overview. You can see the exact positions of each match by clicking "View this data in a table" at the top of the chromosome browser.

Now you will see a table like this:

Each chromosome is numbered, and the exact starting and ending location of each match is shown. I would like to know which ancestor passed along along each of these segments. Did one of them come from Eliza Hendrick?

In Common With tool

I went to my mom's list of Family Finder matches, and clicked the box next to her cousin's name.

I then clicked the "In common with" tool to see how many people shared DNA with my mother and her second cousin.

There were too many matches, so I used the "Advanced Search" to narrow the match list down to the people who share DNA with both my mother and her George cousin and who have the surname Hendrick in their family tree. Since the name can be spelled multiple ways, I just entered the letters "hendr"

Now the list was more manageable. I found a man who is carrying the surname and noticed that he had a family tree and was descended from Eliza Hendrick's brother. 

This looks very promising. I checked the box next to his name and used the Chromosome Browser to compare my mom to her George cousin and her possible Hendricks cousin.

Look at Chromosome 10!

That sure looks like they all inherited this DNA segment from our common Hendricks ancestor, but to confirm this I really need to know that these two men are not only matching my mother but are matching each other. I don't have access to their kits, so there has been no way to see this matching without having them download their results to another database.  

What we have is a great hint.  I have never liked it when I asked a question and someone answered, "I'll give you a hint."  No, just TELL me!

Now I have a tool that will tell me.

Fabulous new tool for FTDNA Family Finder

Goran Runfeldt developed a tool called the Triangulator. You can find it at dnagen.net/triangulator. I learned about this a few days ago when I was watching videos from Genetic Genealogy Ireland 2017. Roberta Estes announced it, and I immediately downloaded it. Thanks Roberta! But most of all, thank you Goran!! This tool is so easy to use it's amazing. You don't have to download anything, and it's just one click to use it. As soon as you install the tool in your browser (it's easiest with the Chrome browser), you then log into your Family Tree DNA account and go to your list of Family Finder matches. You'll see the new Triangulator in the icon "dnagen tools".

Now watch what happens. I clicked the boxes next to Mr. George and Mr. Hendricks, and instead of clicking Chromosome Browser I clicked Triangulator, The screen below immediately appeared. Notice what it is doing. Even though I don't have access to the George and Hendricks kits, the Triangulator is seeing if they match one another and downloading their match data. 

This was happening so fast that it took a few tries for me to get fast enough to capture the screen shots before the process was finished.  Now it is downloading the match data for Mr. George and my mother:

Finally, it downloaded the match data for Mr. Hendricks and my mother:

Notice above that Mr. George and Mr. Hendricks are estimated to be 2nd - 4th cousins, Mr George and my mother are estimated to be 1st - 3rd cousins, and Mr. Hendricks and my mother are estimated to be 3rd to 5th cousins. This means that Mr. George and Mr. Hendricks must share more matching DNA with one another than they share with my mother.

Here's the Triangulator conclusion:

This is so cool. They are all matching on Chromosome 10. The yellow segment is called the "Non-triangulated match area." This means that all three people did not share the entire segment.  Portions of the longer yellow segment are shared by two of the people, but not all three. All three of them share the red segment.  I can find out all of the shared segments on all chromosomes by downloading the "All Segments CSV."  When I did, here's what I found out about Chromosome 10:

Names                    Start Location  End Location  Centimorgans  Matching SNPs

George-Hendricks  16085542           62587402         42.9                    11041

George-Mom          15644423           37088766         24.2                      6096

Hendricks-Mom      15146447           37088766         25.01                    6296

Since all three people have the same Hendricks ancestors in their tree with no other common ancestors, and all three share a common DNA segment, I now know for sure that Eliza Hendrick(s) was my ancestor. I can now add the notation "Confirmed with DNA" to my ancestors at WikiTree.

Here's why I cried when I found this. I share quite a bit with Eliza Hendrick. I am carrying her mitochondrial DNA in every cell in my body. I ordered a mtDNA full sequence test in 2005, but have not yet proven with mtDNA that Eliza was my ancestor.  I have proven it with autosomal DNA.

 Did the common DNA segment come from Eliza's father or her mother?

We still don't know whether the common DNA segment was inherited from Eliza's father or her mother. But I can find out. I found another Hendrix in my mother's list of matches and clicked next to his name.

Mr. Hendrix does not have a family tree, but I added him to the chromosome browser with my mother, Mr. George, and Mr. Hendricks. Here are the results:

And the Triangulator results:

I can keep doing this with other matches. If any of them turns out to be a descendant of Eliza's parents, it will be one more confirmation. But if any is related to me another generation back, I will know whether the common DNA segment was inherited from Eliza's father or her mother. 

I am fired up to find the answer. The journey is just beginning. Love that Triangulator!

FamilySearch Worldwide Indexing Event 2017

FamilySearch.org has a free online family tree that anybody can use. All of us collectively are connecting our ancestors into one worldwide family tree. Of course, documentation is critical to show the evidence for our ancestral conclusions, and for documentary evidence FamilySearch excels.

FamilySearch has the world's largest collection of original records. It has been preserving records from around the world for more than 100 years and began microfilming in 1938. The microfilm collection includes more than 2.5 million rolls. In the past, researchers could order microfilms and microfiche and have them delivered to their local Family History Center or affiliate library. Books and other materials, however, could not be ordered. Therefore, as an avid family historian I used to take a semi-annual trip to the Family History Library to research all materials and extend my family tree.

It would be so much easier (and cheaper!) if all of these records were available online. In order to accomplish this and make the records freely available, FamilySearch began several years ago to digitize its collection. For example, many of the books are now viewable online. FamilySearch initially estimated that it would take more than a century to convert its microfilm collection to digital format. But due to technological advances, more than 1.5 million rolls of census, marriage, probate, and other records are already complete. Microfilms are now being scanned at a rate of approximately 1,000 per day, and the entire process will be finished by the end of 2020. Incredible! FamilySearch acquires all new records utilizing digital cameras.

Digital images are being indexed by volunteers from around the world. The indexed records are then made available to help all of us find our ancestors. You can become an indexer by going to FamilySearch Indexing. Indexing is web based; the indexer sees an image and indexes the information requested. The indexed images will be searchable online at FamilySearch.org at no charge.

In addition to the ongoing indexing, each year FamilySearch has a worldwide indexing event. In 2016, the three-day event far surpassed goals. In only three days, 116,475 volunteers throughout the world indexed 10,447,887 records.

FamilySearch is holding its annual event October 20-23, 2017. This year FamilySearch is particularly interested in indexing French, Italian, Portuguese, and Spanish records, although records in English and other languages will also be available. Here's what FamilySearch posted to its Worldwide Indexing Event 2017 Facebook page:
_______________________________________

Join volunteers from around the world on October 20–23 to help #familysearchindexing (wherever you are). You will have three days to index at least one batch in the language of your choice. If you are fluent in French, Italian, Portuguese, or Spanish—our focus languages for 2017—please help index records in one of those languages. Special training will soon be available to help you prepare!

_______________________________________

This event is fun, and indexing is easy. You can choose from multiple projects in the language of your choice. Give it a try and help preserve the world's records.

Find out more and join the fun by clicking on this link: FamilySearch.org/indexingevent2017

What are the benefits of YFull?

I have received my brother's Big Y results from Family Tree DNA. You can see the incredible discoveries I made by seeing my post The Big Y test from Family Tree DNA can knock your socks off! My brother, who is a Thompson, shared several novel SNPs with a man named Cairns, and we formed a new haplogroup. One of my distantly-related Thompson relatives then ordered the Big Y, and we are awaiting the results. Can I find out more that might help us by submitting my results to YFull.com?

Getting Started

YFull.com is an interpretation service for Next Generation Sequencing tests which include the Big Y test at Family Tree DNA and tests like the YElite 2.1 from Full Genomes Corp.

If you took the Big Y from Family Tree DNA, you can submit your BAM file to YFull. Your BAM file is not automatically generated by FTDNA; you must request it first by going to your Big Y results section and clicking Download Raw Data.

Go to the bottom of the next screen to request the BAM. You will receive an email when your file is generated.

Once your BAM file is ready, go back to the screen above and again click Download Raw Data. On the next screen scroll to the bottom where you will find these links:

Do not click Download BAM because the file is too large. Click Share BAM, and you will receive a temporary link that you will share with YFull.

Now go to YFull.com to order the interpretation of your test results. Your first thought might be, "I just spent a lot of money on the Big Y test. I don't have another $50 to spare right now." Here's the good news. You don't pay up front. They will send you an invoice when the interpretation is finished. So you can order now, pay later.

Our results are in!

When your YFull results are returned, this will be your home screen. There are three main sections: Haplogroups and SNPs, STR results, and Novel SNP results. On the left of the screen are links to even more tools.

There are so many resources that we will cover only a few of them. Otherwise this blog post would take you hours to read.

Haplogroups

First we will see where this kit fits into the human Y tree. Go to the SNP menu on the left of your screen and click Y Report. This will show your haplogroup at the top [here R-A9871] then show your decent from Y-chromosome "Adam". The top of the report is shown in the next image.

Scroll all the way down to the bottom to see your most recent placement on the tree:

On the haplotree at Family Tree DNA, my current haplogroup is R-BY20951 which is the new haplogroup formed when my results were compared to those of my Cairns match. It is further down from R-A9871 and more recent in time. But YFull is only reporting results for kits that are in their system, and Cairns is not yet in the system. So I am still at R-A9871 here.

SNPs

Because the Cairns results are not in YFull this means all the SNPs I shared with him are considered by YFull to be novel ("private") SNPs seen only in my results. We will click on Novel SNPs to see the reports.

YFull's reporting of SNPs is quite a bit more extensive than FTDNA's.  FTDNA reported a total of 26 SNPs in my Big Y results. 23 were shared with Cairns, and three were considered to be novel or "private" variants seen only in my results. YFull found a total of 48 SNPs which were categorized as best quality, acceptable quality, ambiguous quality, and low quality. The best-quality SNPs are shown in the next image.

In the image above the SNP locations are shown as well as the names they have been given. Both Full Genomes Corp and FTDNA had previously named many of these new SNPs. This is one of the problems with SNP naming. There is no consistent naming pattern, and SNPs are sometimes named multiple times. The SNPs starting with the letters BY were named by Family Tree DNA. The ones starting with the letters FGC were named by Full Genomes Corp. There are 12 Best quality SNPs. Two of these were not reported by FTDNA.

Here are the 19 acceptable quality SNPs.  Some were not reported by FTDNA.

There are 15 ambiguous SNPs. Only one was named by FTDNA.

There are also two low quality SNPs. Family Tree DNA did not report these.

You can find details about each SNP and why it was categorized as best, acceptable, etc. by clicking on the other tools. The important issue is this: Family Tree DNA is conservative when identifying SNPs. YFull is reporting several more, but some of these may not be reliable SNPs that can be branch markers on the Y-haplotree. However, when any of these are shared with someone else they can be. Some of these newly-identified SNPs may match Cairns. Others will probably match my Thompson relative. We will no doubt discover new SNPs and be able to determine our relationship more closely when those two additional kits appear on YFull. We can verify these SNPs by testing them at a company called YSEQ.

YFull is also attempting to date all SNPs on the haplotree. This dating is based on the kits that have been submitted to the tree and will become more accurate as more test results are submitted.

STRs

Now, another big discovery.  I have tested 111 STRs at Family Tree DNA which is the maximum I can order. New STRs are discovered in your Big Y test, but they are not reported by Family Tree DNA.

YFull can report approximately 500 SNPs from your Big Y test! Here is a portion of my STR results:

These STRs are compared to the results of other men and I can see a list of matches. I don't have any close matches yet, but I have many distant matches:

If any of these look interesting I can contact the kit owner by clicking the PM (Private Message) link. The link is shown as a blue envelope next to the "Most distant ancestor" column. YFull is serious when they call it a Private Message. If I click the envelope link I see a screen like this

I can hardly wait until I compare my new STR results to my Thompson relative!

Summary

We have touched on only a few of the many benefits of submitting your results to YFull. The system is very user-friendly. Even though it's easy to use, you can get as technical as you want by using the various tools. Their analysis tools are quite extensive and well beyond what I have seen elsewhere.

You will discover new SNPs and new STRs. You may also discover new matches because YFull accepts results from Family Tree DNA as well as Full Genomes Corp.

You will also be helping to build the Y Tree and to more accurately date the various branches.

As with all DNA testing for family history, our results are meaningful only when compared to others. I strongly encourage all of you to submit to YFull.

Update: See Big Changes to YFull
2019 Update: See Advantages of Submitting to YFull

Big Y Update from Family Tree DNA

Family Tree DNA announced changes to the Big Y test. These changes take place October 10, 2017, and will bring much needed improvements. 

We will be releasing a big update to Big Y next week!

Dear Group Administrators, We're releasing a big update to Big Y on October 10th and want to give you a first look before the release goes live. Once the release is live, we will be recalculating Big Y matches. We anticipate this to take approximately 5-7 days. During this time, you will see a "Results Pending" page when you click on the Big Y section. You will be notified by email once your results are processed and ready.   Once the transition is complete, we will update you as to when BAM files will be available.   What’s New? Here’s the breakdown of what we added and how it all works   Human Genome 38 We’ve updated from hg19 to hg38. This is a more accurate representation of the human genome and is the most recent version referenced by the human genome community. Some of the advantages of hg38 are: Better mapping of NGS data to the proper location Consideration of alternative haplotypes across the genome For more information about human genome builds, click here.   Terminal SNP Guide   We've added a terminal SNP Guide that allows you to view and filter the branches closest to the tester's terminal branch on the haplotree. BIG Y Browser   We’re giving you the ability to view your SNP data from Big Y. This will allow you to personally assess all SNP call positions that are being evaluated for matching purposes. This data will be continuously updated. Update by Linda Jonas, October 10, 2017: Conversion is now underway.

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