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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Clinical sequencing across communities in the Deep South Genetic disorders in newborns Kaiser Foundation Research … indications for colorectal cancer/polyposis (CRCP) genetic testing University of Washington, Seattle Gail Jarvik … to demographics and socioeconomic status (other than ancestry) with input from the ELSI/diversity WG; and a …
Health
GenomeEd is a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare professionals and educators.
… collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… And Dissection of Noncoding Regulatory Elements And Human Genetic Variation UM1 HG009435 Yin Shen| Bing Ren University … of California, Los Angeles Analysis of functional genetic variants in RNA processing and expression U01 … were prepared for biologists using human and/or mouse genetic data to study disease, gene regulation, and basic …
Fact Sheet
Learn about the different types of hemoglobin.
… of hemoglobin A, the body makes hemoglobin S due to a genetic variant . While hemoglobin S still delivers oxygen, … — or sickle — shape.   Sickle cell disease is caused by a genetic variant that makes the body produce hemoglobin S …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic Diagnosis at the Point of Care **Eric A. Boerwinkle …
Archive
… Genetic Association Information Network (GAIN) … Archive …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… to investigate ELSI questions. As the pace of genomic and genetic research increases, the development of research teams … emerging ELSI issues is an important addition to ongoing genetic, genomic and ELSI research efforts. A Center should: … communicated, decision-making and couples communication. Genetic Privacy and Identity in Community Settings Ellen …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… improved medical management strategies for patients with genetic disorders. NHGRI is part of the National Institutes … have tested approaches towards efficient identification of genetic etiologies, and have found often-overlooked …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are changes that would …