Search Results
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most promising … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional … psychosocial implications of returning genomic variation data, with all of the caveats regarding statistical …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… and decrease cost while maintaining or improving data quality and the integration of process steps is key to … may be grounds for discontinuation of funding. Provide access to the technology developed under this grant support … and implement plan to disseminate any quantity of sequence data if collected under this grant support.  Genome …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … of looking at the person after looking at the genomic data "iterative phenotyping." Researchers sifted through more … the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… a complete sequence from relatively short-range data generated by sequencing instruments, like a giant jigsaw … two images on top of each other, and leads to both data loss and errors in analysis. To mitigate these issues, … Dr. Koren pioneered the use of newer noisy long-read data (such as generated by Pacific Biosciences (PacBio) and …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… a workshop to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research, and … Research … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and … disparities. … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… and Global Health (CRGGH), have used whole genome sequence data to investigate the origin of the mutation that causes … the Sickle Allele … Researchers used whole genome sequence data to investigate the origin of the mutation that causes … Daniel Shriner … Researchers used whole genome sequence data to investigate the origin of the mutation that causes …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… best practices for the implementation of genomic sequence data into clinical care, as well as research that combines … best practices for the implementation of genomic sequence data into clinical care. … NHGRI meeting focused on research … best practices for the implementation of genomic sequence data into clinical care. … Event …
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… will focus on the following topics: Overview of the NIH Data Sharing Management Policy Application of the DMS Policy to ELSI Research Data sharing templates and resources Q&A from webinar … webinar, please email elsi@mail.nih.gov . … NIH Data Sharing and Management Policy NHGRI’s Data Sharing …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… availability of large-scale genomic and health record data worldwide to advance the science of precision health. … … decade, advances in genomic technologies, computation, and data science have enabled the growth of large genomic … other NHGRI intramural researchers. One core will provide access to the large datasets emanating from various cohort …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… standards available for qualitative interview data? NHGRI recognizes that methods for de-identification of qualitative data are developing, and existing tools may have limitations. … CERA collect and organize information on where and how to access ELSI research data, metadata and the corresponding …