Big Y Elite Paternal Ancestry Test

Big Y Ancestry Test DNA Report

Advanced Y Chromosome Analysis For Paternal Ancestry

  1. Overview
  2. Data Compatibility
  3. Getting Started
  4. The Results (What You Receive)
  5. Instructional Guides
  6. Turnaround Times
  7. Example Results
  8. Education Center

Determine Your Fatherline (Paternal Lineage)

Searching for your ancestral lineage? The Y Elite Paternal Ancestry performs advanced analysis of the Y chromosome and provides detailed insight into paternal heritage and ancestry.

This comprehensive analysis traces your lineage back through specific regions of the world, giving you a fuller understanding of your family’s history, as well as insight into more recent mutations in your genetic code that make you unique.

So many traditions are passed down through generations from father to son. Tracing your fatherline back through time you’ll discover a world of information about your ancestors and where they lived.

 

Data Compatibility

This DNA app analyzes Y chromosome data from next-generation sequencing of either the entire Y chromosome or your whole genome. The analysis can also only be performed on genome data from genetic males since genetic females do not have a Y chromosome.

If you haven't yet had your whole genome sequenced, our Expert Genealogy Package combines 30x whole genome sequencing with extensive genetic genealogy analysis. As part of this package, the entire Y chromosome and mitochondrial chromosome are fully sequenced.

 

Type of Test Compatibility Examples of Test Providers Notes
Whole Genome Sequencing (WGS) Sequencing.com, Dante Labs, Full Genomes FASTQ (including compressed FASTQs), BAM, SAM, and CRAMs are compatible. VCFs are not compatible. (Whole genome sequencing obtains data on ~100% of the genome.)
Whole Exome Sequencing (WES) ❌ Invitae, GeneDx, Ambry Genetics All exome files are incompatible because exome sequencing does not obtain enough data for most genetic genealogy analyses. (Whole exome tests obtain data on ~1% of the genome.)
Genotyping DNA Tests ❌ 23andMe, AncestryDNA, MyHeritage All genotyping data flies are incompatible because these types of DNA tests do not obtain sufficient Y chromosome data. (These tests obtain data on less than 0.1% of the genome.)

 

The following formats of sequencing data files from males can be used with this app:

  • FASTQ (including .fastq, .fastq.gz, .fq and .fq.gz)
  • BAM
  • CRAM
  • SAM

FTDNA's Big Y BAM file can also be analyzed by this app.

 

Getting Started

Upload Data 

If you've already had either your y chromosome or your whole genome fully sequenced, this app can analyze the raw data from that test.

Please read the data compatibility requirements to confirm your data will work with this app. Genotyping tests such as those offered by 23andMe and Ancestry do not obtain enough data for this app because their tests do not sequence the Y chromosome.

To get started, upload your data files using Big Yotta, our secure desktop uploader. Once your data is stored in your Sequencing account, return to this page to start the app.

Order A Test

Our Expert Genealogy Sequencing Package combines 30x whole genome sequencing with deep genealogical analysis. It's designed for genealogy enthusiasts and offers more data than any other test.

We don't offer a separate Y chromosome test because our whole genome sequencing service fully sequences the Y and mitochondrial chromosomes. Unlike tests that only provide Y chromosome data, our service provides you with data on all chromosomes (your whole genome).

 

Ultimate Genome Sequencing DNA Collection Kit

Ultimate Genome Sequencing 
Expert Genealogy Package

 
   
Discounted Price $399  $699
   
Amount of Genome Tested ~100%
   
Technology 30x Whole Genome Sequencing
   

Package Includes

   Whole Genome Sequencing
Full access to all raw genome data and analyzed data
 
 
Includes your choice of 2 additional DNA apps & reports

 

The Results (What You Receive)

Fatherline Ancestry Test

Genetic mapping can now provide anyone with precise information about their ancestry and health. By analyzing your entire genome, we can give you the most detailed blueprint of you that the industry has to offer, giving you insight into your past.

 

Y Haplogroups and STRs

You'll receive extensive information about your Y haplogroup as well as SNPs (single nucleotide polymorphisms) and STRs (small tandem repeats) throughout your Y chromosome.

 

Y-DNA Tree

Through our comprehensive database, this app will also provide you with access to a comprehensive Y-DNA tree.

 

Extended Analysis and Downloadable Results

In addition to the on-screen results, you'll also receive a downloadable zip file that contains even more analysis including:

  • Y-haplogroup match analysis
  • Haplogroup comparisons
  • STR calls
  • Variant calls
  • Two mitochondrial DNA reports (concise variant lists)
    • Includes one report aligned to rCRS and another report aligned to RSRS

 

Instructional Guides

Y Chromosome Paternal Fatherline Analysis

Please refer to the Instructional Guides tab on this page for guidance on using the results.

 

Turnaround Time

The app usually completes within 2-3 weeks. The extended turnaround time is due to several steps requiring manual processing.

You'll receive an automated email from [email protected] once your results are ready.

 

Example Results

The images below are examples of the results that you'll be able to view within your Sequencing.com account. You'll also receive a downloadable zip file containing additional results.

Elite Big Y Results TreeElite Big Y Results SNPs

 

Sequencing Education Center

Sequencing Education Center

Sequencing's new Education Center provides everything you need to know about recent DNA discoveries that may benefit your life. This includes articles on genetic genealogy and sequencing technologies.

If you're interested in how DNA is used throughout society, The Sequencing Blog is a great resource. Our blog includes the latest trends and technological advancements that are integrating DNA into our daily lives. For example, did you know that DNA analysis may have finally revealed the identity of Jack The Ripper?

$50

Reports Guides


Variant Discovery (variantCompare and haplogroupCompare) Reports

This section provides instructions for using the Analysis of Called Variants and Detailed Analysis of Called Variants reports ("variantCompare" and "haplogroupCompare" for short). These instructions will get you started on reading the report and will allow you to identify your list of high-reliability "private" variants. With the "haplogroupCompare" report, you may also be able to make some conclusions about where the variants are located on the Y-tree.

These reports are based on a comparison of your results with the build 37 human reference genome sequence. Differences from the reference sequence are reported and the reliability of the variant is assessed. The word "variant" here refers to SNPs, INDELs, and MNPs, though in most cases SNPs will be of greatest interest.

Novel variants are given new names with the FGC prefix.

The variantCompare report indicates which variants are shared with research samples with public data, based on a quick screen across 1500+ samples. The haplogroupCompare report looks at samples in the same or similar haplogroup (including other Full Genomes kits) and provides calls for the other kits/samples at your kit's variants to determine whether they are shared or not.

These reports are provided with the filenames [ID].variantCompare.[report date].named.tab and [ID].haplogroupCompare.[report date].named.tab.

The instructions focus on using Microsoft Excel, but the approach should be transferrable to other spreadsheet viewers such as Google Sheets and OpenOffice Calc.

The steps below illustrate an analysis of the variantCompare report, but the haplogroupCompare report is structured to be very similar and can be analyzed with these same steps.

Step 1

From Excel, open the report file. You may need to change to the option "All files {*.*)" to see the file in the Open dialog box.

Step 2

We want to open the file as a tab-delimited file. A dialog box should appear, as shown below. Make sure "Delimited" is selected and press "Next".

Y Chromosome Paternal Report Instructions 1

On the next screen, make sure Tab is selected under Delimiters, as shown below. Then press "Finish".

Y Chromosome Paternal Report Instructions 2

The report should then open with the data in the appropriate columns. Note the header at the top of the file which provides some general notes and suggestions.

Step 3

We strongly suggest restricting to the variants with the highest reliability, and excluding variants with "**" and "***" reliability flags, at least to start.

Eventually, you may also wish to consider some of the variants with "**" with the caveat that these sites may pose difficulties for getting reliable results in reference samples, may represent spurious 'false positive' variants or may be unstable as phylogenetic markers.

To filter out these more speculative variants, first select the entire spreadsheet by clicking the corner cell, highlighted in the screenshot below.

Y Chromosome Paternal Report Instructions 3

Then select Filter from under the Data menu, as shown below.

Fatherline Ancestry Test Instructions

Finally, click on the arrow at the top of Column F (Column E in earlier versions of the report) to bring up a pull-down menu for filtering. Uncheck the boxes for "**" and "***" as shown below, and click OK.

Y Chromosome Paternal Report Instructions 5

Step 4

Explore the results. Results are divided into four sections: Shared SNPs, Private SNPs, Shared INDELs, and Private INDELs.

We can scroll down to the Private SNPs section, for example, to see that there are 22 high-quality SNPs classified as private in these results, as shown below.

Y Chromosome Paternal Report Instructions 6

The haplogroupCompare report can be analyzed in the same manner, though it can allow more advanced analyses. This report can facilitate

  1. comparison against other FGC kits
  2. identification of recurrent mutations, listed as shared SNPs, but actually "private" within the kit's particular haplogroup
  3. placement of shared variants on the phylogeny, taking into account the call pattern, including no- calls, in other samples
  4. identification of sporadic cases where SNPs reported to be "Private" SNPs may actually be further upstream

The reliability indicators in these reports have been carefully designed to help filter out potentially unreliable, unstable, or spurious variants. The variants with zero or one asterisks may be considered 'high-reliability' and should have a very low rate of false positives.

 

Variant Genotyping (gtype) Report

The genotyping ("gtype") report shows an analysis of your results at a set of tens of thousands of "known" SNPs. This report is best viewed by opening in a spreadsheet with tab-delimiting (i.e. by following Steps 1 and 2 in the variantCompare/haplogroupCompare instructions). The header of the file also provides some guidance on reading the report.

 

Haplogroup Classification (yKnot) Report

The haplogroup classification ("yKnot") report shows your top haplogroup matches according to ISOGG tree. This report can be opened in any text editor (e.g. Notepad or Wordpad), and it is best viewed with text wrapping or "Word wrap" turned off.

Note that the "Extras" at the top can indicate recurrent instances of known SNPs, but currently this is dominated by a list of SNPs that are shared in most/all FGC yKnot reports due to a small fraction of errors in the SNP database that is being used.

 

Y-STR (lobystr) Reports

The Y-STR ("lobSTR") reports provide an analysis of Y-STRs based on the lobSTR software package. The reports are best opened in a spreadsheet viewer with tab-delimiting (i.e. by following Steps 1 and 2 in the variantCompare/haplogroupCompare instructions).

The main report provides an analysis of hundreds of Y-STRs from the lobSTR database using NIST/lobSTR counting standards. A small subset of these Y-STRS are reported according to Family Tree DNA counting standards in the report with ".ftdna.out" suffix.

The headers of the files also provide some guidance on reading these reports. We suggest focusing on STRs with reliability scores of at least 0.7 to 0.8.

 

mtDNA (mttype) reports

The mtDNA ("mttype") reports indicate differences between your mitochondrial DNA results and the rCRS and RSRS reference sequences. These reports may be viewed either in a text editor or in a spreadsheet (with tab-delimiting).

The first column indicates the mitochondrial site/position with the difference from the reference sequence, the second column indicates the reference allele value, and the third column indicates the result for your kit.

Sites without coverage are indicated by "?" and sites with ambiguous results are indicated by "??". Sites are not reported if they match the reference sequence.