December 1, 2022
Upload DNA

How to Read Raw DNA Data

You may not realize it, but when you take an at-home DNA test, you may have the option to request your raw DNA data in addition to the report you are sent.
Tomohiro Takano

How to Read Raw DNA Data

You may not realize it, but when you take an at-home DNA test, you may have the option to request your raw DNA data in addition to the report you are sent. Many people don’t take advantage of this option because they don’t know how to read DNA data or don’t know what they would do with further analysis.

Interpreting your own data is a challenge. You may make the most of raw data analysis by uploading the information to a data analysis service. However, with a little persistence, you can understand at least some of what the information means and how to put it to good use.

Understanding Raw DNA Data

As soon as your at-home DNA test has been analyzed, you will have access to the raw data that was produced by the analysis. Raw data is the genetic information that is unique to each individual. Depending on the kind of DNA test you took, it will provide you with one of three types of raw DNA data, including:

Autosomal DNA

Autosomal finds information about everyone a person is related to, both through the maternal and paternal lines.

Mitochondrial DNA (mtDNA)

Mitochondrial DNA traces the mother’s ancestral line. This DNA is passed from the mother to all her children.

Y-chromosome DNA (Y-DNA) 

Y-DNA is typically reserved for males since most females do not have a Y chromosome. This DNA testing provides information about the male line of ancestors.

When you receive your raw DNA data file, you will see a combination of numbers and letters, which can look confusing. All of these figures are arranged according to your genetic makeup. They are easier to understand when referred to as autosomal, mitochondrial, and Y-chromosome DNA.

More on Autosomal DNA

Autosomal raw DNA files will include (in order):

  • Reference SNP Cluster ID: This helps to identify your single nucleotide polymorphism (SNP) — SNPs contain the most common genetic variations
  • Chromosome Location: A single number that identifies whether the SNP is found on the forward strand (1) or reverse strand (2) of a chromosome
  • Chromosome Position: This series of numbers references where on the chromosome a single nucleotide polymorphism is located
  • Genotype: These two letters represent the two nucleotides that contain SNP — they only appear in four variations, A (adenine), C (cytosine), G (guanine), and T (thymine)

An autosomal DNA sequence follows this format: rs4941876 – 2 – 987336 – AA.

More on mtDNA and Y-DNA

Raw data for both mitochondrial and Y-chromosome DNA follows a slightly different pattern than autosomal DNA. The first set of markers represents the common names of genetic markers your test is positive for. The next two sets of alphanumeric characters are longer and represent the alternative names of the same genes. A Y-DNA or mtDNA might look like: G83 – M2258 – PF4972.

How to Read DNA Data

The numbers and letters found in your raw data analysis don’t make much sense on their own unless you have a background in reading such data. To learn more, you can:

  • Search DNA sequence databases for more information
  • Consult a genetic counselor with experience interpreting raw DNA analysis
  • Upload your raw DNA file with a testing service

Uploading your data to a third party is the easiest approach and is most likely the one that will provide the most information. The information belongs to you, and you can upload it to any company you wish, even more than one if desired. 

By uploading your raw DNA data to a third party, you can learn more about your genetic traits, ethnicity, and any health risks you should be aware of. The company will provide data analysis based on its DNA research. For that reason, you want to select a company that has already built a wide network for genetic matching if your goal is to connect with lost relatives.

Some at-home DNA test companies provide this service; however, they may not provide all the options an independent company such as Genomelink provides. With Genomelink, you can access health information, global ancestry, and over 250 genetic traits.

DNA Data Does and Don’ts

Whether it is for the fun of building a family tree or for important health research, you want to get the best value from your data analysis. Use these tips to stay safe and use your raw data analysis to its fullest potential.

Don’t Limit Yourself

An ancestry report or a health report is great to start out with, but raw DNA data can provide a wealth of information in the right hands. You may be able to get a more in-depth look with third-party analysis, including recommendations for diet and exercise that are customized for your genetic makeup.

Do Protect Yourself

Don’t choose the first or the cheapest raw DNA data company you find. Make sure the company is accredited and reputable. Read the company’s privacy policy and customer reviews before deciding which option is best for you. 

Don’t Interpret Data as Predictions

DNA data can sometimes be upsetting, especially if you’ve learned a serious disease or condition runs in your family and that your risk for developing that illness is higher than average. Your lifestyle, environment, and several other factors play a big role in maintaining health. Consider any disturbing health information as an opportunity to take preventive measures.

Do Rely on Accredited Research Facilities

Inaccurate DNA data analysis can lead to confusion, hurt feelings, and inaccurate health care advice. Make sure the analysis company you are using is reliable and properly accredited by the American Association of Blood Banks and any other overseeing organizations that are required by the state within which they are located. 

More to Learn

Don’t settle for the limited amount of information your at-home testing kit company provides. Interpreting raw DNA data takes specialized skills and advanced technology that most people don’t have, but that doesn’t mean you can’t explore your data further. Uploading your data with an analysis company provides accurate and comprehensive information as well as recommendations for how to use your data to the fullest. 

For more information about raw data analysis or to get started, contact Genomelink today. 

Tomohiro Takano
Tomohiro Takano
Co-Founder and CEO