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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
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Study shows genomic information can unknowingly influence medical … … Sonja Soo: Can you tell me more about the background of the study? Susan Persky: Researchers are increasingly … information to healthcare providers and how to help them use it equitably. Our knowledge of how polygenic risk …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical … (CCGO), which is encouraging NIH institutes to jumpstart genomic medicine by increasing the use of genomic data in clinical research. CCGO is …
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.
… January 13, 2022  Data sharing is central to the field of genomics. Both human and non-human genomic data have been widely shared through public data … total number of Data Access Requests (DARs) for secondary use of genomic data (see figure)?   … From The Genomics …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, … to develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode …
Event
On October 10, 2024, NHGRI will host 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 … There will be a … however, attendees are encouraged to email questions in advance to simona.volpi@nih.gov . … Agenda … Questions … …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… have sketched out what doctors need to know in order to use the new technology effectively. … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… … Healthcare professionals now have access to a variety of educational and clinical genomics resources thanks to a … a free, online collection of more than 500 materials for use in the classroom and for self-directed learning of … Messersmith, Ph.D., a health policy analyst with NHGRI's Genomic Healthcare Branch, which created the website. "Our …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… is research conducted with human subjects, or material of human origin, in which the researcher directly interacts … has been approved by the FDA and marketed for public use. These studies continue testing the drug or treatment to … about its effect in various populations and gather data on any side effects associated with long-term use. … In …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… working with patients and families to better understand of how genes can cause or influence diseases and develop new … between infection, immunity and clinical decline in individuals with mitochondrial disease. … Clinical studies … Syndrome (FGFR3-Related Craniosynostosis) Cystinosis Use of Cysteamine in the Treatment of Cystinosis Diabetes …