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.
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.
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 are thread-like structures located inside the nucleus of animal and plant cells.
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
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 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.
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease.
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 tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
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.
Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.
Estimated cost of sequencing the human genome over time since the Human Genome Project.
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
A transcriptome is a collection of all the gene readouts present in a cell.
The X chromosome determines your sex, gives some females super color vision and lends its magic to a certain breed of cat.
The Y chromosome of all living men is related through a single male ancestor who lived over 100,000 years ago.
Last updated: May 10, 2021