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News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… and found mouse and human genomes to have a common language in regulation, but that there is a tremendous amount …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… about race and health, lack of minority investigators, language difficulties and a lack of public awareness of …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… intervention reduces serious adverse drug events Natural language processing helps to prioritize critically ill …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… inverted DNA repeats. DNA palindromes are similar to language palindromes such as “racecar” or “kayak,” in which …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… ENCODE Consortium has developed sample informed consent language that explicitly asks for 1) consent to genomic … sharing of genomic data. Below are links to this sample language as well as two examples of IRB-approved consents …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… with Data and Biospecimens: Points to Consider and Sample Language for Future Use and/or Sharing , May 2022 … access or for unrestricted access. Similarly, consent language should avoid both restrictions on the types of users …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… and, to the extent feasible, develop standardized consent language and protocols. Discuss and compile experience with … governance recommendations with best practice and/or model language for informed consent. Actionable Variants and Return …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… National Center for Biotechnology Information (NCBI). The language on this page about trimethylaminuria is technical …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… of hearing, balance, taste, smell, voice, speech, and language and provides health information, based upon …