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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
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… population. Classification of Gaucher Disease There is a wide variation of disease presentation and severity among … presentation of Gaucher disease worldwide. Again, there is wide span of symptoms, some patients are very similar to … of research of our team. … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's … next generation. Now that we can track various microbes' genome sequences very accurately, we can see that antibiotic …
Clinical Research
A study for patients with unexpected genetic results
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.