What if I don't have genetic data?
You can still use this app. When you sign into the app for the first time you'll have the option to select from a list of sample genetic data if you don't have your own. All of the sample data are from real individuals so the analysis, results and genetic report are real, too.
What types of genetic data can I use with this app?
You can use genetic data from almost any laboratory genetic test. This includes:
- Whole genome sequencing and exome sequencing
- 23andMe, Ancestry.com, Family Tree DNA and The Genographic Project (National Geographic)
- Most DNA genotyping microarrays including Illumina Bead Arrays®, Affymetrix Gene Chips® and the Nexus Chip®
Please note that the ability for this app to analyze each trait, condition and disease will depend upon the amount of genetic data in your genetic data file. If there is not enough genetic data in your file then some traits, conditions or diseases may not be able to be fully analyzed or may not be able to be analyzed at all. The results will indicate if this occurs. For example, if there is no genetic data for a specific disease to be analyzed then the result will indicate this in the 'Analysis Alerts' section in the 'No genetic data available' table. This is more likely to occur if your genetic data file is from a company or laboratory that uses DNA microarray technology for their genetic testing, such as Ancestry.com, 23andMe and National Geographic.
Do I need to do anything to the file containing my genetic data before it is analyzed by this app?
Good news... the app does everything for you.
All you need to do is either upload or import the file containing your genetic data into your Sequencing.com account. Start the app, select the file and the app will handle do everything else.
23andMe data can be uploaded or imported directly from 23andMe (via the Upload Center) while Ancestry.com, Family Tree DNA and The Genographic Project data can be obtained from those services and then uploaded to your account at Sequencing.com. You don't need to do anything to the file you obtain from these services... just upload the file to your secure account at Sequencing.com and then you can use it to power most apps.
Both whole and exome sequencing data can be provided unaligned (such as in FASTQ or FASTA formats), aligned but without variant calling (such as BAM or SAM formats) or in VCF, CRAM or AVRO formats.
What about determining sex or reference genome used when the data was created?
Some more good news... the app does this as well. It utilizes an advanced automated approach to determine sex and reference genome (if the file format is downstream of alignment).
The results include a searchable 'Data & Analysis' table that lists all of the data analyzed by this app. What do the question marks and dashes represent in the 'My Genetic Makeup' column of this table?
Two question marks are used when your genetic data file did not contain any data on this specific genetic variant and therefore the data was not tested for and is 'Unknown'. Two question marks are used because each person's DNA contains two copies of that genetic variant so there is one question mark for each copy of the genetic variant in your DNA.
A single question mark will appear when your genetic data file did not contain any data on this specific genetic and DNA commonly only contains a single copy of that genetic variant.
For example, all variants on the mitochondrial chromosome (Chromosome "M") exist as a single copy because DNA only contains a single copy of the mitochondrial chromosome. This is different from most chromosomes, which appear duplicate (there are two copies of chromosome 1, two copies of chromosome 2, etc.). If the variant is on a chromosome that there is only a single copy of and there is no data on that variant in the data file then only a single question mark will appear.
Two dashes are used if your genetic data file does include information about this specific genetic variant but the data is a 'No Call.' A 'No Call' means the lab that generated the file determined that the variant's test result did not pass quality control. A 'No Call' may also appear when Sequencing.com's additional quality control determines a variant's result is not reliable and may provide inaccurate results. Sequencing.com has implemented this additional quality control to ensure that only the highest quality genetic data is analyzed by apps.
Two dashes are used instead of question marks because the genetic data file does contain data on that variant but the variant's results are not reliable.
A single dash is used when the variant's results are not reliable (ie the test result for that variant fails quality control) and DNA contains only a single copy of that variant. For example, all variants on the mitochondrial chromosome that are tested for by a genetic test but don't pass quality control have a single dash as the variant's result.