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News Release
An online Informed Consent Resource created in 2009 by NHGRI has been updated to keep pace with advances in genomics over the past several years
… with potential participants of genomic research. The model language that is provided can help to control unjustified …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… professor and head of the Laboratory of Neurogenetics of Language at Rockefeller University and investigator at Howard …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… definitions, which are presented in a clear, accessible language and a user-friendly format. Terms are defined in … glossary, an effort was made to eliminate stigmatizing language from any of the definitions. Because the talking …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… formats, the latter requiring extraction by natural language processing (NLP). These concepts can be used for … data extraction, such as KnowledgeMap for natural language processing of clinical text and “phecodes” for …
News Release
Sarah Bates has been named the new chief of the Communications and Public Liaison Branch at the National Human Genome Research Institute.
… her roots in journalism. She says that much of scientific language is "technical shorthand," and good communicators …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… required training and equipment); features (e.g., Spanish language versions); and bioinformatics support (e.g., data …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… Uses through controlled access. Similarly, consent language should avoid restrictions on the types of users who …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have. All areas of development including motor skills, language, intellectual abilities, and social and adaptive …