Search Results
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Findings, Genetic Variant, Gene Variant, Gene Variation …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… 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 published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
… societal issues that need to be studied and addressed as genomic science and medicine move forward. The division helps … to ensure that the research findings are incorporated into genomic research initiatives and other NIH and NHGRI …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Genomic variants that cause common periodic fever have spread … National Institutes of Health, determined that specific genomic variants that cause a disease called familial … ways. For example, they can influence some of the genomic variation that accumulates in human populations over time. …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… form should reflect the research uses for which samples, genomic data, and health information might be shared. … to obtain consent for future uses and broad sharing of genomic and phenotypic data. For more information on genomic … data use is consistent with those choices. For genomic studies involving the use of previously collected samples, …
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 … our ability to decipher the information it contains, so genomic data science will be a vibrant field of research for many years to come.  Performing genomic data science carries with it a set of ethical …
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 … EHRs. The ACMG guidance addresses topics such as: types of genomic information and data entry; data usage and access; …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… beyond the academic medical center and explore the use of genomic medicine in community-based clinics and primary care … Two grants focus on the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, especially, disclosing … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and … best interests of the child, pediatricians must recommend genomic sequencing when necessary for diagnosis whether or …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …