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Research Funding
Frequently asked questions specific to the Data Production FOA (RFA-HG-21-029, RFA-HG-21-030 and RFA-HG-21-031) discussed during the MorPhiC pre-application webinar.
… ability to generalize, etc.  Do the samples/cell lines/data derived from them need to be sharable? Yes — products … originally consented for broad sharing is important or the data cannot be incorporated into a resource. But see the next … approach (gene prioritization through assay data production). We expect some diversity of approach, across …
Event
Pre-application webinar on for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) data analysis validation centers funding opportunity announcement (FOA) on September 7, 2022.
… Phenotypes of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers (U01 Clinical trials not … will host a pre-application webinar for the MorPhiC Data Analysis Validation Centers funding opportunity … . All times are in US ET. … Virtual … MorPhiC Data Analysis Validation Centers Pre-Application Webinar … …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… M.D., Ph.D. … Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted access to … are importantly distinct from other genomic research data, most notably in that they do not include …
Educational Resources
Bioinformatics is a subdiscipline of biology and computer science concerned with the acquisition, storage, analysis, and dissemination of biological data.
… storage, analysis, and dissemination of biological data. … Computational Science, Computer Science, Big Data, Biological Data, Bioinformatics … Bioinformatics, as related to genetics …
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 Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… were funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake … investigator-initiated computational analyses on GSP data and develop methods to discover variants underlying … … Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. ​ … Dna Sequencing, …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… each caused by a specific abnormality in the heme production process. … The porphyrias are a group of different … each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains … process controlled by eight different enzymes. As this production process of heme progresses, several different …
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)  …
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 …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… because of a single genetic glitch that leads to the production of a defective protein that spurs uncontrolled …