Search Results
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… The program comprises five Research Centers (RCs) and a Data Coordinating Center (DCC). The research centers will … solely using whole exome sequencing. The DCC will manage data release and disseminate findings; coordinate program … with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the …
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
… Today, however, advances in tools and techniques for data generation are rapidly increasing the amount of data available to researchers, particularly in genomics. This … software and tools to maximalize security in genomic data sharing and storage. General Computational Tools : Any …
Staff
Cristina Kapustij is the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute.
… Genome Research Institute. … Elena Ghanaim, NIH Genomic Data Sharing (GDS) Policy, Informed Consent, health privacy …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Gahl. "There's a central Institutional Review Board and sharing of information," said Dr. Gahl. "People talk and work … Dr. Gahl. That leaves the N=1 person stranded. Sharing of data is so critical - to find the second case. " But, Dr. … Gahl says, our scientific culture has tended not to share data. Now, he says, sharing has morphed into a core part of …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… whole genome of a Fonni's Dog and comparing it to genetic data from 27 other dog breeds, the researchers determined …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… that has caused Alaska Native populations to be wary of sharing their genetic data with researchers and the federal government. Alaska … are also aware of the dual nature of providing genomic data. Many in the Alaska Native community realize that if …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… Human Genome Project (HGP) was to submit their sequence data into a public database within 24 hours of being … to as the “Bermuda Principles.” The legacy of rapid data sharing within the HGP, as well as other large …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… practical experience with searching and downloading data from the ENCODE Portal, querying ENCODE data using the ENCODE Element Browser, exploring genome-scale chromatin interaction data using the 3D Genome Browser, and using the WashU …