Search Results
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo.
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The … were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the … a single actual human or a representation of human genomic variation. A reference sequence provides researchers …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply … collaboration and leadership. An immersive experience in various settings, it allows for a deep dive into project, … Genomics in Practice ( IGNITE ) Consortium, the Clinical Sequencing Evidence-Generating ( CSER ) Consortium, the NHLBI …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in biomedical research and health care. …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects … (CCGO), which is encouraging NIH institutes to jumpstart genomic medicine by increasing the use of genomic data in clinical research. CCGO is co-sponsored by the National …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… clinical practice is the question of how experts can act in the best interest of patients and research participants … Striking the Balance Between Expert Perspective and Patient Autonomy - exploring this tension at multiple levels in genomics research and medicine, from patient-provider …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, … and his co-workers, reported their findings March 28, 2016 in the online edition of the journal Clinical Chemistry . The … NGS can identify differences in the DNA sequence - called genomic variants - as accurately as Sanger sequencing. To …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will … secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS … NHGRI to Intramural Investigators employing exome/genome sequencing. … DNA Sequencing, Exam Sequencing, Genome …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a …