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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data or … … NOT-HG-21-022 : Notice Announcing the National Human Genome Research Institute’s Expectation for Sharing Quality …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … Lastly, although much has been learned about the human genome, there remains much to be discovered. Genomic … PubMed ] [5] Van Driest SL, Wells QS, Stallings S, et al. Association of arrhythmia-related genetic variants with …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… data use is consistent with those choices. For genomic studies involving the use of previously collected samples, … do not have [disorder]. You may learn something about your genome that relates to the health of your relatives. If so, … However, it is possible that the information from your genome, when combined with information from other public …
Event
The Advances in Genomic Technology Development (AGTD) 2023 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) in-person and virtually from Tuesday, June 6, until Thursday, June 8, at The Sanford Consortium for Regenerative Medicine, La Jolla, CA.
… Carolyn Hutter, Ph.D. NHGRI Stephanie Morris, Ph.D. NHGRI Genome Technologies: Protein-DNA Interactions Session … Berkeley and Jingtian Zhou, Salk Institute for Biological Studies 8:45 a.m. STAMPing RNA binding protein-RNA networks … of California, Berkeley Genome Technologies: Genome-wide Methods Session Moderators: Sonya Rozenblat, University …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Ph.D. The Jackson Laboratory. Michael Smith, Ph.D. NHGRI Genome Structure and Function: Part I Session … Jesse Dixon, M.D. Ph.D. Salk Institute for Biological Studies 9:25 a.m. AVATAR: Novel Technology for Highly … Genomic Technology (GT) Program grantees who work on a wide range of novel approaches to studying the structure and …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.
… tribunal cuando la Asociación de Patólogos Moleculares ( Association of Molecular Pathologists ), la Unión Americana …
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
… however, it may not be practical or necessary for many studies. While informed consent is not required by federal … are generated through studies that include whole genome sequencing , whole exome sequencing, epigenetic … distinction between targeted genetic research and broader genome sequencing, so that participants understand the scope …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… we do. Simply stated, the design of some genomic research studies has exacerbated scientific flaws due to how data are … ways in which people can differ from one another. A wide variety of population descriptors are used to describe … to look at the frequency of DNA variants across the genome. The definitions, measurement, uses and …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on … organisms such as mice or zebrafish. Researchers rely on genome editing tools as a way to explore the connection … help researchers determine if specific changes made to the genome contribute to the disease. It can also lead to the …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… to be stored in a research biobank and used for many studies. [OR] We are asking for your participation in a study … will study your entire genetic sequence, known as your genome. The genome sequence will be read and this information will be …