Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus … reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… and develops approaches to address challenges related to genetic and genomic research.  Genomic Healthcare This … deterministic nature of genomic findings and perception of genetic risk. How genomic researchers and the research … social inequities. How concepts of race, ethnicity and ancestry have been (and are currently) used in genomic …
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. 
… to harmonization, interoperability and analysis, including genetic similarity;  Address challenges and identify …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… Year of Submission Application Resources Use of Genetic Information by Life, Long-term Care, and Disability … of Submission Application Resources Impact of Psychiatric Genetic Data on Civil Litigation and its Relationship with … Design to Create Templates for EHR-Mediated Return of Genetic Test Results Diane Korngiebel 2017 Summary Statement …
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 use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and … pathways, gene expression, and both protein–protein and genetic interactions. Given the significant use of these … the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and …
Research Funding
The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program Abstracts and Activities Database organizes abstracts for all ELSI-related activities
… term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy) The type of grant (i.e., … Legal Issues In Genetics, Social Issues In Genetics, Genetic Discrimination, … The NHGRI Ethical, Legal and Social …
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy) The name of the author The name … Legal Issues In Genetics, Social Issues In Genetics, Genetic Discrimination, … The ELSI Publications and Products …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… precision of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will … precision of predicting how individuals with pathogenic genetic variants manifest disease. … NHGRI aims to establish … precision of predicting how individuals with pathogenic genetic variants manifest disease. … Research Funding …
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.
… Year in Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable … with lifespan in Iceland Impact of digitally enhanced genetic results disclosure in diverse families Chronic … routine whole-genome sequencing Clinical signatures of genetic epilepsies precede diagnosis in electronic medical …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last … said Lisa Brooks, Ph.D., program director of the NHGRI Genetic Variation Program. "We are looking for approaches … to predict structural changes in RNA that are caused by genetic variants. Stanford University, Stanford, California; …