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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… option when searching for a diagnosis. Some research studies look at general categories of diseases and will … of making a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of medications to … the public with current information on clinical research studies. For example, the study entitled "Studies of Children …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in … with the same condition to participate in scientific studies. When families band together, their efforts sometimes … year or two. … Matt Might and his family provide one such genome sequencing story. Matt and his wife Cristina knew …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Interaction on Prenatal Testing ObGProject - The Genome; for Women's Healthcare Professionals NHGRI/CSER …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency and precision. … Did you … the world. … Already, we have seen some exciting early studies that use CRISPR to edit the human genome in an effort … until we understand more about the resulting population-wide consequences. What happens if the malaria parasite …
15 Ways Genomics Influences Our World
Genomics helps us understand evolution and protect our biological ecosystems.
… it was a hoax . In 2008, scientists determined the genome sequence of the platypus . That study showed that the … lineage over many years of evolution! Similar genomic studies involving thousands of other life forms have yielded … living things that are present based on matches to known genome sequences. Metagenomics is important because …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… a level not previously possible. … Did you know that your genome helps uncover the history of your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences among … the extracted DNA [see DNA Sequencing ]. Genomic studies like these have allowed us to examine human genomes …
Fact Sheets
Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.
… of DNA are necessary for molecular and genetic analyses, studies of isolated pieces of DNA are nearly impossible … For example, most mapping techniques in the Human Genome Project (HGP) relied on PCR. PCR is also valuable in a …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… in genomics are helping you access information about your genome from your home. … Did you know that anyone can buy a … in their DNA and provide them with information about their genome? Advances in genomics since the Human Genome Project … to provide their genomic information to large research studies [see Social Context ], such as recruiting 25,000 …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… the same. … Did you know that at the base-pair level your genome is 99.9 percent the same as all of the humans around … of human races . We have always known that skin comes in a wide array of hues and tints. Thanks to the work of Dr. Sarah … Sarah and other genetics researchers to call for medical studies to stop  using skin color or race as a biological …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… which most DNA sequencing experiments are done. The human genome contains about 3 billion base pairs that spell out the … a human being. … Since the completion of the Human Genome Project, technological improvements and automation … well over 100,000 billion bases per year, and an entire genome can be sequenced for just a few thousand dollars. Many …