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The National Human Genome Research Institute (NHGRI) has produced this series of fact sheets to explain complex concepts in genomics research to a non-scientific audience. Teachers, students and the general public alike will find the materials clearly written and easy to understand.

Genomic variation dynamic graphic
Human Genomic Variation

Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.

DNA sequencing by gel electrophoresis
Human Genome Project Fact Sheet

A fact sheet detailing how the project began and how it shaped the future of research and technology.

Machine Learning
Artificial Intelligence, Machine Learning and Genomics

With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.

Informed Consent
The Informed Consent Process

Informed consent is more than a form; it’s a process. What does it involve?

Informed Consent
Why is informed consent required?

Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.

Diversity in Genomics Workforce
Genomics and Diversity in the Workplace

Enhancing the diversity of the research workforce fosters innovation and creativity.

Double Helix
Diversity in Genomic Research

Diversity among genomics research participants is essential for improving the health of everyone.

Eugenics
Eugenics and Scientific Racism

Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”

Virology
Genomics and Virology

Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.

COVID vaccine
Understanding COVID-19 mRNA Vaccines

mRNA vaccines inject cells with instructions to generate a protein that is normally found on the surface of SARS-CoV-2, the virus that causes COVID-19.

Vaccine Production
COVID-19 mRNA Vaccine Production

Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.

COVID Testing
Understanding COVID-19 PCR Testing

Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.

Biological Pathways
Biological Pathways Fact Sheet

A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.

Guide to Genomics
A Brief Guide to Genomics

Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.

Chromosomes
Chromosomes Fact Sheet

Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.

Chromosome Abnormalities
Chromosome Abnormalities Fact Sheet

Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.

Cloning
Cloning Fact Sheet

Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.

Comparative Genomics
Comparative Genomics Fact Sheet

Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.

The Cost of Sequencing a Human Genome | NHGRI
The Cost of Sequencing a Human Genome

Estimated cost of sequencing the human genome over time since the Human Genome Project.

DNA
Deoxyribonucleic Acid (DNA) Fact Sheet

Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.

DNA microarray
DNA Microarray Technology Fact Sheet

A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.

DNA Sequencing Costs: Data | NHGRI
DNA Sequencing Costs: Data

Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.

DNA Sequencing
DNA Sequencing Fact Sheet

DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.

Epigenomics
Epigenomics Fact Sheet

Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.

FISH
Fluorescence In Situ Hybridization Fact Sheet

Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.

Data Points
Genomic Data Science Fact Sheet

Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.

Genetic Mapping
Genetic Mapping Fact Sheet

Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.

Genetics vs. Genomics Fact Sheet | NHGRI
Genetics vs. Genomics Fact Sheet

Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).

GWAS
Genome-Wide Association Studies Fact Sheet

Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.

Knockout Mice
Knockout Mice Fact Sheet

A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.

Newborn Screening
Newborn Screening Fact Sheet

Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.

Person (icon) circled
Polygenic Risk Scores

A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.

PCR
Polymerase Chain Reaction (PCR) Fact Sheet

Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.

Transcriptome
Transcriptome Fact Sheet

A transcriptome is a collection of all the gene readouts present in a cell.

Last updated: February 1, 2023