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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
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Joseph Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH …
Talking Glossary
An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome.
… Exome … An exome is the sequence of all the exons in a genome, … the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome. … An exome is the sequence of all the exons in a genome, …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… (NHGRI) has tracked the costs associated with DNA sequencing performed at the sequencing centers funded by the … Program. Here, NHGRI provides an analysis of these data, which gives one view of the remarkable improvements in … Human Genome Project, Whole-genome Sequencing, Whole-exome Sequencing, Cost Of Sequencing Human Genome … Data used …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake novel, …
Data Sharing
The NHGRI Data Sharing Governance Committee is responsible for the activities necessary for the Institute to implement and maintain NIH and NHGRI data sharing policies.
… The NHGRI Data Sharing Governance Committee is responsible for the … for the Institute to implement and maintain NIH and NHGRI data sharing policies. These activities include:  Promoting standard data sharing practices and operating procedures across NHGRI. …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… Broad data sharing promotes maximum public benefit from federally … research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely … produced by array-based technologies or high-throughput sequencing technologies. Data pertinent to the interpretation …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI … physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. … thousands of patients would be getting clinical genome and exome sequencing." Exome sequencing amounts to an abridged …
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 … for such costs in different fashions. Cost per genome data - 2022 … A genome consists of all of the DNA contained … example, all of the exons in the human genome (the human 'exome') correspond to ~1.5% of the total human genome. …
About NHGRI
The Genomic Data Science Working Group facilitates engagement of the National Advisory Council for Human Genome Research on genomics and data science issues.
… The NHGRI Genomic Data Science Working Group facilitates a deeper engagement of … on complex issues at the interface between genomics and data science. … The NHGRI Genomic Data Science Working Group was created in 2017 as a …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… applying? Responsibilities as a PI, consent, type of data accepted, and how to apply … What happens after my … provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will …