Search Results
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … an organism's genome. … Deoxyribonucleic Acid (DNA), DNA Sequencing, Genome, Human Genome Project … Shotgun sequencing …
Organizational Structure
NHGRI’s Office of Genomic Data Science (OGDS) provides leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science.
… as a @GA4GH Driver Project! These are real-world genomic data initiatives that help develop and pilot GA4GH standards … September 29, 2023 … LinkedIn … The Office of Genomic Data Science (OGDS) was established in 2021 to: Develop, promote, support and coordinate genomic data science activities  across all parts of NHGRI. Serve as …
Educational Resources
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule.
… DNA Sequencing … DNA sequencing is a laboratory technique used to determine the … … Adenine, Cytosine, Guanine, Thymine, ACGT, DNA, DNA Sequencing … DNA sequencing refers to the general laboratory …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual … but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most promising … Research Institute Katrina Goddard, Benjamin Wilfond Exome sequencing in Diverse Populations in Colorado & Oregon …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… around the world analyze and explore their genomic data. These tools are free and openly accessible to anyone. … … amplicons. bam2mpg A Bayesian genotype caller for NextGen sequencing data. BuddySuite A collection of four independent, … Var-MD An annotation and analysis tool for next-generation sequencing variants in rare diseases and small pedigrees. …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing Plan.  Follow the standard process outlined in … molecular data produced by array-based or high-throughput sequencing technologies. NHGRI's Expectation Under the Policy …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… Frequently Asked Questions Data sharing is an important aspect of the research endeavor that ensures maximal use of participants’ data for scientific discovery, rigor and reproducibility, and more. NHGRI-funded researchers subject to NIH’s data sharing policies are expected to share comprehensive …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
… workshop on the accessibility & utilization of ENCODE data. The workshop included an introduction to the ENCODE project and resources available to access ENCODE data, as well as specific research applications using ENCODE data. Additionally, there was designated time for attendees …
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 … information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for … … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… Landscape Originally published: January 13, 2022  Data sharing is central to the field of genomics. Both human … Genomics, Centers for Mendelian Genomics, Whole Genome Sequencing in Psychiatric Disorders, Convergent Neuroscience, … medicine study to investigate the utility of whole-genome sequencing in the practice of medicine. The ClinSeq dataset ( …