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News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… plays in modulating that expression. … An Atlas of Human Gene Expression The GTEx awards will contribute to a resource … in the DNA code - may influence gene activity and lead to disease. The grants will add data from analyses of tissue … a disease with those without the disease, establishing associations with particular variants and the disease being …
Educational Resources
Linkage is the close association of genes or other DNA sequences on the same chromosome.
Educational Resources
HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health.
Timeline
A timeline highlighting key moments in the development of eugenics, with a focus on the American eugenics movement.
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.
… Us Research Program, and UK Biobank to better understand disease and drug response. Prior to joining the NIH in 2020, … Program. … Dr. Denny’s laboratory seeks to discover gene-disease relationships by gathering, assessing, and … to create trans-initiative resources cataloguing genetic associations across phenotypes. The Precision Health …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… to identify which sequence variants are relevant to disease. As a result, information on only a few genomic … NCBI’s publicly available ClinVar database and sharing gene-level interpretations through GenCC. This group works … Develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in September 2013 to build an … As of February 1, 2019, ClinGen has classified 670 gene-disease pairs. ClinGen is primarily funded by the NHGRI, …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… in genomic databases means that researchers may miss gene-disease relationships, particularly when a gene variant is rare in Europeans. It also limits …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… genomic information might inform us about the biology of disease and the potential of the genome to raise the quality … use this as a model to investigate how to go from single gene diseases to complex diseases from diagnostic and … types of evidence might be needed to prove gene-disease associations and the validity of tests and results. Perhaps …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information … of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … basic questions: Is there a true relationship between a gene and disease? Does the genetic variant in a gene cause or …