What is genomic data?

Genomic data is data related to the structure and function of an organism's genome. The genome is all the cellular data an organism needs to grow and function. Genomic data includes information like the sequence of molecules in an organism’s genes. It also includes the function of each gene, the regulatory elements that control gene expression, and the interactions between different genes and proteins. A global network of biologists, geneticists, and data scientists collect genomic data. This network is expected to create many exabytes (EB) of genomic data in the next decade.

What is genomic data science?

Genomic data science combines genetics and computational biology research with statistical data analysis and computer science. For example, genomic data scientists use data from DNA sequences to research diseases and discover novel treatments. The data helps them identify genetic variants associated with disease and determine their functions. 

Genomic data science requires various computational methods and tools to analyze large datasets of genetic information. Genomic data scientists must develop methods to integrate multiple data types into comprehensive models. These models can do things like predict the risk of common diseases based on an individual's genetic makeup.

What is genomic data sharing?

Genomic data sharing is the exchange of genetic information between different entities, such as organizations, research institutions, and individuals. It allows for the exchange of data for genomic research and data analysis. 

Scientists use shared data to develop treatments for genetic disease, identify new genetic markers, and create personalized medicine.

Genomic data is commonly shared through secure databases, managed by organizations such as the National Institutes of Health (NIH). These databases allow researchers to access and analyze genetic information from various sources.

What information is found in genomic data?

Genomic data typically includes the following information.


RNA is a molecule that transports genetic information in a cell and creates proteins. Scientists use RNA in genomics for applications like gene expression, RNA interference, and translation.


DNA is the genetic material of all living organisms. The DNA sequence contains information about the structure and function of genes. Scientists study DNA data to identify and characterize disease-causing mutations, understand how genes interact, and discover new genes.


Proteins are molecules composed of amino acids, which are involved in many cellular processes. Proteins play a role in DNA sequences, gene expression, and other cellular activities. 

Why is genomic data collected?

Genomic data is collected to understand how genetic information governs the way organisms develop and function. Next, we discuss some practical applications of genomic data.

Life sciences research

Scientists collect genomic data to understand and explore the evolutionary history of organisms. To trace the evolution of certain species, researchers study genetic information and learn how species adapt to changing environments. By studying the genetic code, the scientific community gains insight into how genes interact with each other and the environment. And they learn how these interactions affect an organism's development and health.

Genetic disease diagnosis

Genomic data is used to diagnose and monitor genetic diseases like cancer, genetic disorders, and inherited diseases. Specific genetic markers are identified and monitored to determine the progression of a disease and treatment. Preventive health care also uses genomics research to treat issues early and improve outcomes.

Drug development 

Scientists use human genomic data to investigate diseases or medical conditions, identify and assess drug targets, and develop new treatments. Genomic data helps them develop effective drugs and personalized treatments as well as screen and test potential drugs. 

Read how AWS helps companies with drug discovery »

Forensic science

Forensic scientists study genomic data to identify suspects in criminal cases. DNA data can link suspects to crime scenes and clear innocent people. 

Population genetics

Genomic data is used to study population genetics and evolutionary history. Researchers gain insight into human migration and population development through human genome data analysis.

What technologies are used in genomic data analysis?

Genomic data analysis involves the use of various technologies to identify patterns and trends in genetic data.

Bioinformatic tools

Bioinformatics combines all areas of biology—including biochemistry, genetics, physiology, and molecular biology—with computer science, applied mathematics, and statistics. Scientists use bioinformatics to develop new algorithms and software tools that analyze and interpret genomic information. Bioinformatics tools allow researchers to compare and contrast genomic data from different species, identify genomic sequences, and determine the function of genes and proteins.

Machine learning

Machine learning identifies patterns in genomic data, such as genetic variation, sequence motifs, and regulatory elements. Algorithms can classify genomic data into different categories, predict the function of a gene or protein, or identify biomarkers for disease.

Read about machine learning on AWS »

Statistical software

A statistical software, such as R or SAS, analyzes genomic data and interprets the results. It can identify patterns in the data, such as correlations between genes or traits. The software performs statistical tests and determines whether genomic patterns are statistically significant. It also creates predictive models, such as genetic disorder risk. 

Sequencing technology

Sequencing technology, such as next-generation sequencing (NGS) or Sanger sequencing, generates data to be analyzed by bioinformatics tools and algorithms. These technologies sequence DNA and RNA molecules and use data to identify genetic variations, analyze gene expression, and detect mutations.

Visualization tools

Data visualization technologies represent genomic data graphically, so that it’s easy for researchers to understand and interpret. Visual elements like charts, graphs, or maps highlight key data points and simplify complex genomic datasets. Scientists use the visual representations to extract actionable insights from raw genomic data.

Read about data visualization »

Big data tools

Big data tools process, analyze, and store large datasets such as genomic sequences, gene expression, and mutation data in distributed computing environments. This data can then be used to identify patterns, correlations, and anomalies.

Read about big data »

What are the challenges in genomic data management?

Volume and privacy are two of the most important challenges with genomic data management.


Genomic datasets are vast, so it’s a significant challenge to manage and store them. They’re difficult to store in traditional databases for a few reasons:

  • Genomic data is highly complex with multiple interlinking that creates data duplication
  • The data constantly grows and changes, so it requires frequent updates
  • Sophisticated algorithms require the data to be preformatted in complex ways for data analysis

Organizations require a large amount of computational power and storage resources to analyze genomic data.


Genomic data contains information about an individual's health and medical history. Privacy is a significant challenge due to the sensitive nature of the information and the potential for misuse.

For example, genomic data can identify individuals with increased risk of certain diseases and conditions. So, the data could potentially be misused to discriminate based on genetic information. To avoid misuse, businesses must ensure controlled access and high levels of security in genomic data management.

How can AWS support your genomic data requirements?

At Amazon Web Services (AWS), we offer Amazon HealthOmics to support your genomic data requirements. HealthOmics allows healthcare and life sciences organizations to quickly and efficiently store, query, and analyze genomic data.

By streamlining your time-consuming tasks, you can make faster progress in your genomics research. You can focus on improving health outcomes and advancing scientific progress.

Here are benefits of using HealthOmics in your research:

  • Unlimited and purpose-built storage that’s compatible with bioinformatics file formats
  • Scalable bioinformatics workflows and data analytics
  • Data collaboration and governance for genomic data sharing

Get started with genomics data on AWS by creating a free AWS account today.

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