Search Results
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… 4:45 p.m. Reviewer's Choice/ Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in … Hall 3:00 p.m. — 4:45 p.m Complex Traits Sequencing-based genome-wide association study of triglycerides in East … neurodevelopment/psychiatric genetic results" A social-network assessment of adult participants in a …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… healthier nations worldwide. … The National Institutes of Health (NIH) is the premier biomedical-research … nations. Such collaborations will establish a world-wide network of professionals that will provide healthcare … in the field of interest indicated in the cover letter and based on the needs of their countries, where identified. This …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Awards Jay Shendure Nadav Ahituv Martin Kircher University of Washington UC San Francisco Charite Universitatsmedizin … through the lens of the cis-regulatory code HG012069 Network Awards Harinder Singh Jishnu Das University of … and how these effects shape phenotypes. The program is based on recommendations from the 2019 workshop "From Genome …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… (2012); fellowship in Rheumatology at the University of California, San Francisco (2016). She also served as the … From 2016-2021, she worked as an Assistant Professor of Medicine, in the Division of Rheumatology at the … identifies ethnicity- and disease-specific expression signatures . Commun Biol . 2021 Apr 21; 4(1):488. Lanata CM , …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… business’ as we ushered in Fiscal Year 2024 on October 1. Of course, we do not have a Fiscal Year 2024 budget yet; … health. It examined how clinical management changes based on new genomic information and how such information … ancestrally diverse backgrounds to examine multi-omic “signatures” of conditions such as fatty liver disease, …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results disclosure in diverse … cancer from routine whole-genome sequencing 10. Clinical signatures of genetic epilepsies precede diagnosis in … Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… The primary mission of the Alliance of Genome Resources (Alliance), Model … in September 2016 as a one-stop-shop resource to allow integrated access to the knowledge from these resources. Its … Genome Database (MGD) , WormBase , Zebrafish Information Network (ZFIN) , Saccharomyces Genome Database (SGD) , …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
… Dr. Wolfsberg is the associate director of NHGRI's Bioinformatics and Scientific Programming Core. … She has collaborated with NHGRI investigators on a variety of projects, from genomic characterizations of DNAse I … Dr. Wolfsberg made her transition to computationally based research by performing her postdoctoral fellowship at …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Ph.D. in genetics from the Johns Hopkins University School of Medicine, where he studied the genetics of mitochondrial … protein-coding genes could be assigned a putative function based on at least one identified Pfam domain. However, for … out, in collaboration with the Undiagnosed Diseases Network. All the known genes linked to human deafness will …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D. The Gene … a journey through key genetics discoveries that are some of the greatest achievements in the history of science. … In this fun animated series, the gene’s complex …