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News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… fertility, including sperm production. … An international research team has generated the first truly complete sequence … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… is surely not alone in his astonishment. The field of DNA sequencing is full of ideas that are just crazy enough to … Division of Genome Sciences at the National Human Genome Research Institute (NHGRI). "If we can't see what's there … that began in 2004 through the Genome Technology Program. "Direct RNA sequencing is one of the particularly …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … Using comprehensive phenotyping and next generation sequencing, she and her team have provided diagnoses to …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … were developed with support from the National Human Genome Research Institute (NHGRI) Genome Technology Program and its Advanced DNA Sequencing Technology awards. …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… Jeannine Mjoseth … Genomics research is a quintessential team science. Contributing to … 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, Maryland. … "Bob's …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… The Genome Technology (GTP) program at NHGRI supports research to innovate and develop new methods, technologies … Concept Clearance Concept Presentation Novel Nucleic Acid Sequencing Technology Development – February 12, 2018 Council … Advancing Genomic Technology Development for Research and Clinical Application (Notice of Special Interest) The …
News Release
NIH will hold a Reddit "Ask Me Anything" with members of its NHGRI Ethical, Legal and Social Implications Research Program.
… Anything" (AMA) with members of the National Human Genome Research Institute's (NHGRI) Ethical, Legal and Social Implications Research Program, a part of the Division of Genomics and Society. … … epidemiology, public health, public policy, genomics and clinical research - to study the potential societal …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… of genomics.  …  On October 1, the NHGRI Intramural Research Program (IRP) celebrated its silver anniversary. … genetic diseases; developing new paradigms for mapping, sequencing, and interpreting the human and other vertebrate … genetic diseases. The IRP has research laboratories and clinical facilities on the main NIH campus in Bethesda, …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center (PSC) … of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to … compliance with NIH and HHS Human Research Protections Program (HRPP) requirements. … Overview of Services … Contact …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … Predicting Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in …