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Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , RFA-HG-24-022 , and RFA-HG-24-023 . The purpose of these NOFOs is to … Population Genomic Screening in Primary Care Pre-Application …
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.
… Investigator Institution Title Grant Number Mendelian Genomics Coordinating Center Susanne May University of Washington University of Washington (UW) Mendelian Genomics Data Coordinating Center U24HG011746 Mendelian Genomics Research Centers Stephen Montgomery Stanford …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic … some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … provide a foundation for gaining greater insights into the genomics of human disease." These reports mark the …
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.
… Resources (Alliance), Model Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain sustainable genome information resources that … to support comparative biology. It is enabling comparative genomics across multiple species in the MODs which is …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… were to: Understand NASEM report recommendations, and consider how they relate to the ongoing use of legacy data;  Summarize current approaches to the use of population descriptors in/for legacy data;   Define … with current approaches to harmonization, interoperability and analysis, including genetic similarity;  Address …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas … diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… As summer winds to an end and fall beckons, NHGRI will 'shift gears' a bit in its … three Town Halls (one virtual, one in Seattle, Washington, and one in the California Bay Area) were open-ended discussions about the future of genomics. We continue to build on what we learn from each …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… From The Genomics Landscape Originally published: January 13, 2022  Data sharing is central to the field of genomics. Both human and non-human genomic data have been widely shared through … From The Genomics Landscape Originally published: February 3, 2022  …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… In the first study of its kind, an international team of genomics researchers has identified new regions of the human … opening new avenues for research on skin diseases and cancer in all populations. … how the cells that produce skin pigment - melanocytes - and genes work together to protect skin from the damaging …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… of common drug treatments. She also hopes to find ways of using a patient's genomic information to enhance diagnostic … NHGRI in 2005 as senior advisor to the NHGRI Director for population genomics, and in 2007 established NHGRI’s Office … population and clinical research, including the Population Architecture for Genomics and Epidemiology (PAGE) Network , …