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- Ethical, Legal and Social Implications (ELSI) Research Program3
- 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
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome … costs and achieving a high quality of DNA sequencing data." This group of awards is the last for the Advanced DNA …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… the project took on a wide range of other goals, from sequencing the genomes of model organisms to developing new … STSs are helpful in chromosome placement of mapping and sequencing data from many different laboratories. STSs serve as …
Staff
​Chris Wellington is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science.
… is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science. His primary focus is in the Genome Informatics … the NIH Common Fund Human Microbiome Project and the Big Data to Knowledge initiative. Mr. Wellington received his …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… within their Institutes to effectively use genomic data in clinical research and clinical care. The NIH Office … we will offer partnering institutes access to subsidized exome sequence data on a total of 1,000 NIH Clinical Center … Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical …
Data Sharing Policies
Sample informed consent language, aligned with each of the informational elements of consent for genomic data sharing (GDS) outlined by NIH as important to convey, in language understandable to prospective participants.
… Elements Outlined by NIH Guidance  Genomic and phenotypic data, and any other data relevant for the study (such as exposure or disease … future use and sharing of genomic and phenotypic data.  Example 1: Consent for General Research Uses (GRU)  …
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.
… sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into strips. If … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …
Secondary Genomics Finding Service
The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis.
… protocols are in development or under amendment. Sequence data will not be annotated until the SGFS has been able to … Policy for Secondary Findings from Next-Generation Sequencing Research Darnell et al., 2016 Publication … and return of actionable secondary findings in clinical sequencing. Contains the most recent list  of genes …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing Informatics Tools … GS-IT provides sequence …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Valentina Di Francesco is NHGRI's first Chief Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide leadership, … for NHGRI activities, programs and policies in genomic data science. Ms. Di Francesco joined NHGRI in 2014 and was …