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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… research collaborations to tackle major challenges in genomic and precision medicine. It will be important to have India’s genomic researchers involved in those international efforts. … novel and innovative genomic research projects. Additional information can be found in the recently issued Notice …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … patients and doctors and for patient health overall. As genomic information about patients becomes more and more available, …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide … RNA, or mRNA, the molecule in the cell that takes information from protein-coding DNA - the genes - to the … scientists use enzymatic reactions to convert its information back into cDNA and then clone it, creating a …
Staff
Dr. Dave Kaufman is a program director Division of Genomics and Society​ at the National Human Genome Research Institute.
… related to the ethical, legal and social implications of genomic research. Dr. Kaufman serves as the primary ELSI … Kaufman focuses on ELSI Research Program grants related to Genomic Healthcare and the integration of genomic information and technologies into clinical care. He also …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… explain how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the … type of cancer will progress , find disease-causing genomic variants and identify genetic disorders by examining … and their severity, and to understand how genomic information influences decision-making.  View video on …
Policy Issues
Genetic information is used by law enforcement to investigate criminal acts and exonerate those who have been convicted of crimes they did not commit.
… Technological advances have made genetic and genomic tools faster, cheaper and more compatible with limited or older samples. Today, genetic information is used by law enforcement to investigate … criminal acts. The legal system also uses genetic information to exonerate those who have been convicted of …
The Genomics Landscape
In the November 5, 2020 edition of The Genomics Landscape, Dr. Eric Green focuses on the 2020 Strategic Vision.
… (consisting of infrastructure, resources, training, genomic literacy, data science, and exciting areas of … related to DNA synthesis and editing, characterizing genomic variants, understanding genomic mosaicism, and … new therapies. Please visit genome.gov/covidcode  for more information. …  NIH has issued two surveys to gather data on …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… sequencing, a move aimed at broadening the applications of genomic information in biomedical research and health care. Some of … sequencing, a move aimed at broadening the applications of genomic information in medical research and health care. … …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Her substantive work investigates the function of new genomic knowledge about common, complex health conditions … and behavioral research on the translation of emerging genomic technologies for health benefit. Since then, she has … platform for future communication of complex genomics information. Dr. Persky's substantive research program sits …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… and their definitions . … Related Resources … The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG, please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A …