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 …
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 …
Event
NIH staff from NHGRI, ODSS, NIMHD and AoU will hold a pre-application informational webinar for prospective applicants to the funding opportunity (RFA-HG-22-002) on July 6, 2022, at 12 p.m. ET.
… Hub for Enhancing Diversity in Computational Genomics and Data Science , or “the Hub,” is an NIH initiative that leverages NHGRI’s Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL) and …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… Consult with her/his 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? … Find out in 4 …
News Release
The NIH-funded Genomic Data Science Community Network unites institutions from across the country to diversify young researchers working in genomic data science.
… The NIH-funded Genomic Data Science Community Network unites institutions from … country to diversify young researchers working in genomic data science . … In sunny central California, Rosa Alcazar, … can access cloud computing platforms, such as the Genomic Analysis, Visualization and Informatics Lab-space (AnVIL) , …
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 …
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 … 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 …