Search Results
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… Human Genome Project (HGP) was to submit their sequence data into a public database within 24 hours of being … to as the “Bermuda Principles.” The legacy of rapid data sharing within the HGP, as well as other large … genomics projects, remains today. Open, quick, and quality data sharing—though not without its challenges—is an ideal …
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 …
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 … Steering Committee will need to establish a process and analysis pipeline that receives and combines the genetic and …
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 … to receiving secondary findings? … What type of data does the SGFS accept? … How do I apply? … What are the …
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).
… Variant of Uncertain Significance (VUS) … When analysis of a patient’s genome identifies a variant, but it … of uncertain significance (abbreviated VUS). … 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 …
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 …
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 …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… team places the order. … 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 … If the secondary finding is refuted by the confirmatory analysis, then a CLIA report will be issued that explains …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … The term candidate gene refers to a gene that is …
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 …