Search Results
Research Funding
A scalable and interoperable resource that leverages cloud-based infrastructure for genomic data access, sharing and computing.​
… by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants. Multiple NIH DACs piloted the … A list of available datasets can be found in the DUOS Data Library. …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… Epidermal Necrolysis (SJS/TEN). SJS/TEN is the severest of adverse drug reactions that affect the skin, and one of … in others. "We're looking at the specific molecular and cellular signatures in the skin and blood of those … "The intended outcome from this meeting is to build a network of investigators whose research efforts will be …
File
… NHGRI#programs#in#this#area#following#the#conclusion#of#the#current#phase#of# ENCODE .##ENCODE#(En … and an Analysis Working Group (AWG) to assist in and lead integrated analyses of the data, and computational analysis … under review) Census: Tool to estimate s equencing library complexity from test sequencing runs (released, …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… Center for the Multiplexed Assessment Of Phenotype RM1 HG010461 Douglas Fowler University of … model-organism phenotypes (​Phenopackets​) 4. Develop an integrated phenomics platform ​to provide the research ​(e.g. … reproducible live cell culture and tissue-based experimental genomics disease models. Tissue models …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
… proposed laws or proposals to repeal laws in one house of a legislature. Bills are generally designated by the house in which they are first introduced ("H" for House of Representatives, "S" for Senate) and numbered in order of … that has the force of law. Executive Orders are usually based on existing statutory authority and require no action …
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… aims to develop optimal approaches for the integration of genomic discoveries into clinical and community contexts. … Our research focuses on a spectrum of disorders from those that have a major public health … translation of genomic discovery We evaluate community-based educational approaches that leverage social influence …
Fact Sheet
Sickle cell disease resources for patients
… only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About Sickle Cell Disease   Centers for … and Prevention Sickle Cell Disease   American Society of Hematology (ASH)    What is Sickle Cell Anemia? (video ) …
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… 1 Roundtable on Inclusion and Engagement of Underrepresented Populations in Genomics National Human … Program Director, Molecular Libraries Program Co -Chief, Library of Integrated Network -based Cellular Signatures (LINCS) … Roundtable on Inclusion and Engagement of Underrepresented Populations in Genomic Research.pdf …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… Moving beyond this impasse and proving the usefulness of genomic medicine were among the thorny topics tackled June … such as the Clinical Sequencing Exploratory Research Network (CSER), the Implementing Genomics in Practice … best ways to tailor medical care to individual patients based on their genetic differences. At the same time, genomic …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… data? NHGRI recognizes that methods for de-identification of qualitative data are developing, and existing tools may …  Guidance on de-identification from the Department of Health and Human Services NIST’s tools for … from the National Cancer Imaging Archive The National Library of Medicine's clinical text de-identification tool  …