Around 5 million of our 3 billion DNA letters differ between individuals

Ancestry testing matches DNA to known genetic variants found in specific ancestries

After a lab receives a person's sample, the DNA is separated into single strands, which are chemically cut into smaller fragments. The fragments are then fed into an array of variants of known origins, and technicians observe if a person's fragments bind to specific variants.

DNA carries the unique instructions that shape how each person grows and functions

The human genome contains over six billion DNA letters, organized into 46 chromosomes inherited from both parents. Genes—sections of DNA—serve as templates for making proteins, and variations in these sequences can affect how our bodies work or respond to the environment.

Changing a single letter in DNA can permanently alter an organism

Genetic mutations occur when cells replicate, which requires a copy of DNA to be created, and involve substituting, deleting, or inserting letters in a cell's genetic code. Mutations can be caused by normal cellular processes, chemical exposure (e.g., carcinogens), or radiation and may result in genetic disorders or genetic variations that drive evolution.

All humans share 99.9% of the same DNA

Of the 3 billion base pairs that make up the human genome—the complete set of genetic material for the species—the diversity of humans is the result of variations in about 3 million molecular bases. The closest nonhuman genetic match is the chimp, with 98.8% similar genetics.

Genetic drug matching, called pharmacogenomics, can help avoid dangerous drug reactions

Certain gene variants can affect how quickly or slowly medications are broken down in the body, affecting drug effectiveness and the risk of drugs failing. Such testing is often not covered by insurance companies though research indicates if these tests were performed for more than six drugs across the US population, avoided ailments would likely climb into the hundreds of thousands. (Some users may encounter a paywall.)

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

Like counting how often a word is repeated in a sentence, forensic scientists can identify people by tallying how often short segments of genetic information repeat in specific parts of a person's DNA—a set of numbers that varies from person to person.

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

Genes are the basic units of heredity

These segments of DNA—long molecules made of nucleotides that coil into chromosomes—code instructions for making specific proteins, which correspond to different traits. Approximately 98 to 99% of human DNA is non-coding, with functions beyond protein synthesis.

The 4% DNA difference between humans and chimps

On the genetic level, we're not all that different from chimps. But those small differences in DNA can have huge effects. This 11-minute video digs in to the topic.

Why your dog’s DNA isn’t destiny

DNA tests tell people about their pet’s breed and attempt to predict things about its behavior and health. But for all that these tests might provide some interesting results, they need to be taken with caution. Here's a look at what we can and can't learn from our pets' DNA.

Scientists identify hundreds of genes responsible for OCD

Researchers analyzed the DNA of more than 53,000 people with OCD and identified 30 areas in the genome linked to the disease, containing 249 genes of interest. Of those, several were linked to other brain disorders, paving the way for genetic treatments of various mental illnesses.

The lack of diversity in DNA databases limits their applications

European ancestry dominates genetic research, hindering the usage of genetic databases for precision medicine for other groups, including African Americans, who face higher health risks due to genetic variants. Many Indigenous communities have also resisted genetic research due to past exploitation. (Some readers may experience a paywall.)

Medical experts warn that completing genetic testing for Alzheimer's can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications.

US regulators have approved an at-home genetic test looking for BRCA gene mutations

The direct-to-consumer genetic test, approved by US regulators in 2018, examines 3 out of the more than 1,000 known breast cancer-linked genetic mutations. It looks for genetic variations that can increase risk for breast, ovarian, and other cancers. These mutations are most commonly found among Jewish people with Eastern European ancestry.

Somatic expansion, the lifelong growth of specific repeating DNA sequences, is being studied as a potential treatment target for Huntington's disease and other disorders.

Polygenic scores aim to predict traits based on the contributions of many genes

These novel tests for multifactorial conditions evaluate the probability of traits like elevated blood pressure, diabetes, or high cholesterol based on what researchers currently know about different gene variants and their links to various traits. The tests are predictive, not definitive, partly because environmental factors influence the expression of genes. What's more, knowledge about cumulative effects from individual genes continues to evolve. The American Society for Reproductive Medicine states that these tests are too unreliable and nascent for clinical use.

Explore the differences between healthy and cancerous cells using a DNA microarray

In this simulation, you will learn how scientists use microarrays to experiment on thousands of genes at the same time. By determining which genes are on or off, users can identify those that contribute to cancer formation.

Modern genetic testing stems from a 1950s discovery about the cause of Down syndrome.

Gene therapy treats a disease by editing the disease's underlying DNA, replacing it with a functional variant.

Even if you have some ASD-linked gene variations you may not develop ASD

Individual environment and life experiences affect how genes perform in the body, potentially adding methyl groups to DNA that affect their function and turning genes on and off—which may heighten or reduce disease risk.

Genetic tests aren't always actionable, which is one reason genetic counselors are so vital

This podcast interview with a Harvard Medical School professor focused on cancer genetics and prevention discusses the specifics of genetic testing and insights and the challenges of processing the outcomes of the testing and what may be actionable—or not.

The Golden State killer case spotlights how genetic testing can affect your—and your relatives'—privacy

Police managed to use consumer DNA test results to close a case 32 years after a killer was believed to have committed at least 12 murders and 50 rapes. Their "smoking gun": They compared a DNA sample from the crime scene to genetic data relatives had shared on an open-source genealogy database. The suspect was caught after investigators explored family trees on this database and connected the dots from over 100 distant relatives who had some percentage of DNA that matched the killer. (Some users may encounter a paywall.)

How uploading your consumer genetic testing could lead to a distant relative's arrest

This podcast includes a discussion about how law enforcement can compare DNA samples from a crime scene against voluntarily uploaded DNA on consumer genealogy databases to close cases. Investigators can and have cross-referenced a suspect's crime scene DNA with that of a suspect's relatives who happened to have chosen to upload their genetic information to an open-source genealogy database.

Half of human DNA is inherited from each parent

Within most cells reside 23 pairs of chromosomes made of tightly wound DNA, and half of each pair is inherited from each parent. The 23rd pair consists of two X-shaped chromosomes, or one such chromosome paired with a Y chromosome, and determines biological sex.

Many cancers arise from genetic mutations inherited from your parents

These mutations may happen in response to environmental or lifestyle factors, or may be passed down through family members. Genetic testing can be important in catching certain family cancers early and ensuring patients receive the right treatment for their disease.

See a timeline of landmark discoveries in the field of genetics to gain a better understanding of more than a century of advances.

Genomic sequencing is the process of determining the order of nucleotides that make up an organism's genetic information and can be done in about 24 hours or less for human DNA.

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

Only 2% of human DNA codes for proteins

The entire human genome contains about 20,000 protein-coding genes, with the rest having initially been categorized as "junk" DNA. However, research since 2003 suggests that this "dark genome" regulates how protein-coding genes are expressed in response to environmental factors encountered by cells.

Despite privacy risks, scientists are using DNA in the air to assess ecosystem health

While DNA in soil and water samples has long been used for such analyses, airborne DNA is being incorporated into such efforts to monitor individual species abundance, detect invasive species, measure biodiversity, and determine the success of conservation actions. Future work may include detecting attacks from biological weapons.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

Carrier screening enables individuals without symptoms to see if they carry a gene for disease

Some conditions are autosomal recessive—meaning a person may carry a gene for that condition, but not have symptoms. Cystic fibrosis, sickle cell disease, and Tay-Sachs disease are examples of autosomal recessive diseases in which a person must inherit two copies of a nonfunctioning gene—one from each parent—to develop disease.

All publicly available DNA sequences are available at GenBank

The National Institutes of Health's database stores comprehensive, annotated DNA sequences as part of the International Nucleotide Sequence Database Collaboration. It encourages unrestricted data access within the scientific community while allowing submitters to retain intellectual property rights over their data.

The history of the gene: an interactive timeline

Humans didn’t need modern technology to figure out that kids tend to look like their parents. But what did humans believe about genetics before we knew about DNA or cells in general? Explore this interactive timeline to see how philosophers and scientists throughout the ages tried to explain how traits are passed from generation to generation.

Tumor genetic profiling can lead to targeted treatments

Genetic profiling of tumors—based on a sample from the tumor, a patient's blood, or both—can help clinicians determine if targeted therapies known to block the growth of certain types of tumors would be appropriate for specific patients.

About 70% of the Human Genome Project's reference genome came from one donor

Volunteers who donated blood to the Human Genome Project consented to using no more than 10% of their DNA, raising questions about the project's legality. Listen to how pressure from a private competitor may have driven officials to ignore ethical standards.

The $3B project scientists called 'junk'

In 1990, scientists set out to map all of human DNA. A $3B bet many called "junk." But the Human Genome Project's radical transparency and a race with a private company sped it to completion in just 13 years. Today, that once-contested map underpins nearly every breakthrough in genetics and personalized medicine.

Why genetic similarities between humans suggest a past near-extinction event

Researchers have found that low genetic diversity among humans—even those on opposite sides of the planet—may result from a breeding population of as few as 1,280 adults, estimated to have existed 930,000 years ago. This genetic bottleneck may have resulted from a near-extinction or from a small population of human ancestors, from which we all descend, that broke off from a larger population.

The structure of DNA helices comes in three major varieties

The hereditary molecule can take the form of A-DNA, B-DNA, or Z-DNA based on environmental conditions such as ion concentration and humidity—a characteristic identified by Rosalind Franklin. A-DNA is the shortest and widest of the three, while Z-DNA is the longest and narrowest. B-DNA—the most common variety in living cells—is the intermediate.

The promises and perils of using at-home genetic tests for your health

A primer on genetic testing, personalized medicine, and the promise of pharmacogenomics–the use of genetics to predict an individual's response to a drug.

Many of the new prenatal genetic tests for rare genetic conditions are inaccurate

Established screening tests for Down syndrome in utero are reliable and accurate. But a New York Times investigation into expanded prenatal genetic tests for very rare diseases—much rarer than Down syndrome—found that more than 80 percent of the positive test results turned out to be wrong based on follow-up testing. These expanded tests for rare diseases are performed from a blood draw at 10 weeks of pregnancy and aim to detect chromosomal abnormalities linked to rare diseases. Companies that offer these controversial tests counter that it's only a screening test—not a diagnosis—picking up true positives and noting that patients can and should be counseled about what the findings mean. (Some users may encounter a paywall.)

Silicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parents

These tests claim to show how at-risk a hypothetical baby would be for genetic syndromes. The newfound industry has prompted ethical and medical debates, with critics questioning their accuracy and highlighting the potential problems behind pursuing the perfect baby.

DNA's four-letter blueprint makes the variety of all living things possible

The proteins responsible for cellular functions and an organism's traits are built outside of a cell's nucleus from RNA—single-stranded molecules created by reading the information in DNA. DNA's double-stranded structure makes it more stable and allows RNA to be made from either of its complementary strands.

Gene expression patterns are similar between ASD, schizophrenia, and bipolar disorder

Postmortem brain tissue analysis suggests there are genetic and epigenetic similarities between individuals with autism, schizophrenia and bipolar disorder. All three conditions appeared to have activation of genes in astrocytes and suppression of specific genes that function at the junction between neurons, called synapses. (Some users may encounter a paywall.)

Here's why genetically identical sisters can have different colored eyes

The sequence of DNA that we inherit from our parents encodes directions for making our cells and giving us specific traits. Identical twins have the same DNA sequence, so how can one twin end up with a genetic disorder while the other twin does not? Robin Ball explains how the secret lies in X chromosome inactivation.

An estimated 1% of DNA mutations in bacteria can produce more dangerous strains

Researchers have developed a technique to monitor these mutations in real time. Using this technology, scientists found that mutations occur at a steady rate, with 1% leading to potentially deadly changes.

At-home genetic testing results commonly led users to healthier lifestyles

Italian research that aimed to investigate what people do longer-term after receiving direct-to-consumer genetic test results indicated that whether the results were positive or negative, people tended to adopt a healthier diet after receiving the results, and they'd still maintained it a year after receiving their results. Some users also reported an overall reduction in stress over their health concerns. (Some users may encounter a paywall.)

Visualization of printing synthetic DNA

Ever wonder how synthetic DNA is made? Discover how GenScript uses innovative technology to synthesize precise, high-quality DNA at a larger scale than ever before.

How personalized gene-editing saved a baby's life

KJ Muldoon had a 50% chance of surviving a genetic mutation until doctors developed a one-of-a-kind gene-editing therapy. In an interview with one of the researchers behind the treatment, learn what it will take to make personalized genetic medicine possible for everyone.