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News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Green, M.D., Ph.D. "These results give us important new genomic insights into the development and behavior of an … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource … in concert to advance knowledge connecting human genomic variation to human health. …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, Genetic Variation, Gene …
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. …
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 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, …
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; …