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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… a workshop to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research, and … Research … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and … disparities. … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… algorithms for the efficient analysis of large-scale genomic datasets with a focus on genome assembly. Genome … a complete sequence from relatively short-range data generated by sequencing instruments, like a giant jigsaw … led the development of an approach which uses parental genomic information to identify sequences belonging to either …
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 submitting a batch of data, please complete and initial the bottom part of this …
The Genomics Landscape
In the November 5, 2020 edition of The Genomics Landscape, Dr. Eric Green focuses on the 2020 Strategic Vision.
… related to things like diversity, equity, social justice, data sharing, and team science. The second, “sustaining and … (consisting of infrastructure, resources, training, genomic literacy, data science, and exciting areas of …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… 1 to 2 p.m. highlighting publicly available genetic and genomic resources for celebrating National DNA Day. Fourth, … together illustrative stories of remarkable genetic and genomic advances, the film highlights the major breakthroughs … Research Centers (RFA-HG-20-007) and Mendelian Genomics Data Coordinating Center (RFA-HG-20-008) Ruth L. Kirschstein …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… 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 … applying? … Responsibilities as a PI, consent, type of data accepted, and how to apply … Responsibilities as a PI, …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… or access to a treatment in development. … A wide range of genomic research studies need participants, each with … and Accountability Act (HIPAA) that restricts the sharing of medical information unless you have provided … Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human Rights, Federal Laws Protecting Research …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Gahl. "There's a central Institutional Review Board and sharing of information," said Dr. Gahl. "People talk and work … Dr. Gahl. That leaves the N=1 person stranded. Sharing of data is so critical - to find the second case. " But, Dr. … Gahl says, our scientific culture has tended not to share data. Now, he says, sharing has morphed into a core part of …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Healthcare Interoperability Resources (FHIR) is a clinical data standard and an application programming interface to … Records (EHRs). FHIR provides an opportunity for the genomic medicine research community to develop ways to … information to the NIH policy for data management and sharing: Protecting privacy when sharing human research …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …