Search Results
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… practical experience with searching and downloading data from the ENCODE Portal, querying ENCODE data using the ENCODE Element Browser, exploring genome-scale chromatin interaction data using the 3D Genome Browser, and using the WashU … User's Guide to the Roadmap Epigenomics and ENCODE Data Resources …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… open-access resource that integrates genetic and genomic data, bioinformatic method results, and curated knowledge … visualizations we develop for the A2FKP to help interpret data produced by IGVF, and in turn integrate data produced by … to develop and promote a unifying framework for the analysis of genomic states with their developmental …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
… When analysis of a patient’s genome identifies a variant, but it … When analysis of a patient’s genome identifies a variant, but it … Such information may include more extensive population data, functional studies, and tracing the variant in other … When analysis of a patient’s genome identifies a variant, but it …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… Consult with their IRB to determine if secondary variant analysis is routine or if participants can opt-out. Provide … samples are sent to SGFS. This includes ensuring that all data sent to the SGFS come from research participants who have appropriately consented to secondary variant analysis and return. Coordinate communication with research …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… After the SGFS has received your data in the form of a .vcf file, we will commence annotation. … your acceptance to the SGFS, you will also receive an SGFS Data Submission Form with the top part completed. Prior to submitting a batch of data, please complete and initial the bottom part of this …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical … finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical … finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… as age, body-mass index, alcohol use and other clinical data, all of which can affect an individual’s risk for … aim to investigate ways to incorporate additional clinical data into the risk score calculations. Researchers have … Network will also leverage the NHGRI Genomic Data Science Analysis, Visualization, Informatics Lab-space (AnVIL) …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… NHGRI and NIMHD to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research , and its … the scientific rigor in collecting racial and ethnic data, especially in clinical settings; standardize data-collection methodologies; develop new approaches to …
Staff
Helen Thompson was a Program Specialist for the NHGRI Office of Genomic Data Science.
… as a program specialist for the NHGRI Office of Genomic Data Science (OGDS) from 2023 to 2025. Helen provided … supporting communications efforts, and assisting in data science activities. She also served as the Executive … and Data Science Program. She supported the NHGRI Genomic Analysis, Visualization and Informatics Lab-pace (AnVIL) …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… the variants are not present. Do I have to use eMERGE data in preparing my application? No, any dataset can be used … should describe the source and availability of the data they have used. Will PRS be developed and validated for … receive genomic predictors and others who would have these data held back as a control? NHGRI is not expecting to …