National Human Genome Research Institute

03/26/2025

Each year, around two million pregnancies in the U.S. receive non-invasive prenatal testing, but a few years into the use of these tests, clinicians started to see unexpected results.

In some of these cases, the atypical results can be explained by benign tumors, autoimmune diseases, or blood abnormalities in the pregnant individual. In rare cases, the person has cancer.

A new Scientific American story highlights NIH intramural investigator Dr. Diana Bianchi and her research group called Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY): https://www.scientificamerican.com/article/a-prenatal-test-of-the-fetus-turns-up-cancers-in-pregnant-mothers/

The study involves a series of follow-up medical tests, including a MRI scan of the whole body. The researchers also surveyed the participants to understand their experiences receiving the prenatal test results and how they made the decision to be screened for cancer.

You can also read a recent NHGRI article on Dr. Bianchi’s work here: https://www.genome.gov/news/news-release/what-not-to-expect-when-expecting-when-prenatal-screening-suggests-cancer

03/24/2025

Did you know that RNA can fold into different shapes? There are many different types of RNA, including Transfer RNAs (or tRNAs for short), that fold into different shapes to help them function and be stable!

tRNAs are folded into a distinct L-shape that allows them carry out their key role in protein synthesis. Learn more about tRNA and its shape by creating your own paper model of it! Check out our instructions and printable paper for folding: https://www.genome.gov/about-genomics/teaching-tools/transfer-RNA-paper-model

03/19/2025

Scientists use reference genomes as a guide to study humans and find genomic variants in the genome! A reference human genome sequence is an established, high-quality and well-accepted sequence of a human genome. This reference can give comprehensive views of the differences in people’s DNA! Learn more in our human genome variation fact sheet: https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genomic-variation

03/14/2025

Scientists in the Telomere-to-Telomere ( ) consortium published the first complete, gapless human genome sequence. This sequence can lead to a better understanding of our genomic variations and provide insight for missing heritability and human disease.

With this completed sequence, researchers discovered more than 2 million additional variants in the human genome! Future studies will be crucial for explaining how these variants affect our health.

Researchers used new methods of DNA sequencing and computational analysis to complete the last 8% of the human genome that was incredibly complex and had repetitive stretches of human DNA!

Learn more about this incredible effort: http://genome.gov/T2T

03/12/2025

Transfer RNAs (called tRNAs for short) are small RNA molecules that play an important role in protein synthesis! Each tRNA corresponds to one of the 20 possible protein building blocks in humans called amino acids. As the ribosome reads each codon along an mRNA, the tRNA bring the correct amino acid, which is then added to the growing protein molecule!

Many types of RNA, including tRNAs, fold into specific shapes that help them function and keep them stable. Complementary sequences at different positions along the length of an RNA fold the molecule into loops and other complex structures.

tRNAs are folded into a distinct L-shape that helps them carry out their function. One end of the tRNA has a specific sequence to match a codon on the mRNA, while the other end of the tRNA has a site to carry the amino acid that will be added to the new protein.

Learn more in our RNA fact sheet! https://www.genome.gov/about-genomics/educational-resources/fact-sheets/ribonucleic-acid-fact-sheet

03/10/2025

How do genomic variants affect our health? Genomic variants influence the risk for specific diseases. In some cases, inherited diseases can be traced to variants in a single gene. An example of this is cystic fibrosis, a disease caused by variants (or mutations) in the CFTR gene.

Diseases that result from the risk conferred by several genomic variants, typically in conjunction with environmental factors, are called complex or polygenic diseases. An example of one of these is coronary artery disease. People with this disease are believed to often have 60+ of risk-conferring variants that are spread across the genome.

Learn more about genomic variants and their influence on human health in our fact sheet! https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

03/07/2025

Researchers are still trying to understand what every gene in the human genome does on all levels. NHGRI’s MorPhiC program aims to address this problem by creating a resource of molecular and cellular phenotypes of null alleles of every human gene.

Null alleles are versions of a gene that produce no functional RNA or protein. Null alleles are useful to infer the function of a gene by producing a strong consistent phenotype.

In a new paper, the MorPhiC consortium outlines their strategic vision and discusses their methods and how their data will integrate with data from other consortiums.

The group hopes that by phenotypically characterizing null alleles of every human gene, they will provide a resource useful for understanding gene function broadly.

Read the paper, published in Nature: https://www.nature.com/articles/s41586-024-08243-w

Learn more about the MorPhiC program: https://www.genome.gov/research-funding/Funded-Programs-Projects/Molecular-Phenotypes-of-Null-Alleles-in-Cells

03/05/2025

Studies indicate that more than 98% of people have a genomic variant that could affect how they respond to commonly prescribed medications. For example, some people might respond to a standard dose of medication, while others will respond better to a higher or lower dose.

Pharmacogenomic testing can determine whether a patient has specific genomic variants that could affect how they respond to a specific medication.

The testing involves analyzing the patient’s DNA obtained from a saliva sample, a blood sample or a cheek swab. Based on the results, the healthcare provider can make more informed recommendations for a medication.

Scientists have identified over 100 medications for which known genomic variants play an important enough role to inform the guidelines for prescribing those medications. Researchers are continuously identifying new interactions between medications and genomic variants.

Learn more about pharmacogenomics in our new fact sheet! https://www.genome.gov/about-genomics/educational-resources/fact-sheets/pharmacogenomics

03/03/2025

Genomics is constantly evolving and advancing, including the regular development of new experimental technologies and data-analysis methods.

Such advances are readily applicable to ongoing efforts to develop new and more inclusive sets of reference human genome sequences and improve the ability to detect all variants in each newly sequenced human genome.

The long-term goal is to have sufficient knowledge about genomic variation in all human populations, ensuring equity in the benefits of genomic medicine. Learn more in our Genomic Variation factsheet! https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genomic-variation

02/28/2025

Mitochondria are organelles that produce most of energy for our cells. Mitochondria actually have their own DNA! Mitochondrial genomes can affect human health, and understanding the unique genomic variants in mitochondrial DNA can lead to new insights about health and disease. Learn more in our Talking Glossary of Genomic Terms!

Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.

02/26/2025

What is actually involved in sequencing a genome? We got the top experts at NHGRI to show you how! They brought some fun props along, including a toy syringe, a leaf blower, noodles and fake mustaches. Watch them sequence in 7 “easy” steps! https://www.youtube.com/watch?v=UDqW_0bKAH8&t=2s

02/24/2025

The Human Genome Project brought together thousands of researchers from around the world and from many different disciplines to work on completing the first sequence of a human genome! The project was critical for advancing policies and earning increased support for the open sharing of scientific data. Learn more in our HGP fact sheet: https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project