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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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.
… scientific questions, collect biological samples, purify and sequence the DNA and analyze the resulting data. The … 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center … and for valuable introductions to those working in the large genome sequencing centers around the world. "NISC …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different … are of great interest because they influence the scope and scale of almost all genomics research projects. … Significant … (diploid) genome is ~6 billion bases in size. Genomes are large and, at least with today's methods, their bases cannot …
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… Kapustij, M.S., has been named chief of the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research … Institutes of Health cooperative research grant titled, "Sequencing of Newborn Blood Spot DNA to Improve and Expand …
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 … over and over again. … Researchers now are able to compare large stretches of DNA - 1 million bases or more - from … of gene regulation in disease. Ongoing and planned large-scale projects use DNA sequencing to examine the development …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … The two-day meeting, titled, … into the clinic. In addition to the long-established Large-Scale Sequencing and Analysis Center (LSAC) program, the GSP …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to … tools ranging from high-throughput biologic methods, large scale informatics methods, classic bench laboratory …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of … who are too young to give informed consent. … In a new analysis, a working group of the Clinical Sequencing …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program has funded … the expertise and flexibility to respond rapidly to the large number of emerging and evolving ELSI issues is … Genetics at Columbia University Medical Center is a scale-up of the Columbia University Exploratory Center Grant …
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney … incorporating diverse aspects of data, computation, and molecular biology to make breakthroughs in our … to be a memorable inaugural seminar. … Hybrid: Virtual and In-Person … MD … 50 South Drive … Room 1227 … Center for …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… protocol navigation assistance to NIH investigators and staff in the development and administration of study protocols that require NIH … navigators with knowledge of the protocol review cycle and expertise in Institute and NIH policies and procedures, …