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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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… NHGRI Intramural Genomic Data Sharing Plan Form (Basic Study Information) … documents: ☐Institutional Certifications ☐NHGRI Intramural Genomic Data Sharing Plan (this form) ☐Routing Sheet (see … Read Archive (SRA) 1☐ GenBank ☐ ClinVar ☐ Model Organism Database (specify): ☐ Yes ☐No Are you requesting an …
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… the lack of ancestrally diverse populations represented in genomic studies and how that results in limitations for genomic science and medicine. P resentations and discussion … was recognized. A key recommendation wa s for greater diversity in future researc h studies to promote participant …
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… Move beyond cataloging to understand functional roles of genomic elements in specific biological contexts ¥ Develop …
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… Genomic Medicine 9April 19-20, 2016Silver Spring, … to disease mechanisms•Prediction and annotation of genomic variant function•Biomedical ontologies for data and … in progress….. https://www.genome.gov/27564185/nhgri-genomic-medicine-ix-meeting-bedside-to-bench--mind-the-gaps/ …
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… NHGRI Extramural Genomic Data Sharing Plan (Basic Study Information) Version … required documents : ☐Institutional Certifications ☐NHGRI Genomic Data Sharing Plan (this form) ☐Routing Sheet (see … Read Archive (SRA) 1☐ GenBank ☐ ClinVar ☐ Model Organism Database (specify): ☐ Yes ☐No Are you requesting an …
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… scientific opportunities to fill evidence gaps in genomic medicine implementation • Make recommendations for future research in genomic medicine implementation • Evaluate the key … antiplatelet therapy • Reduce adverse drug side effects Diversity in ancestry 72,147 IGNITE participants …
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… Phase II ( IGNITE II ): Pragmatic Clinical Trials in Genomic Medicine National Advisory Council for Human Genome … groups and one RFA for a Coordinating C enter to assess genomic medicine interventions by conducting a series of … 1) measure the clinical utility and cost -effectiveness of genomic medicine interventions through large , pragmatic, …
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… Strategic Plan, is to Òdevelop and sustain genetic and genomic initiatives in clinical and laboratory practice, … and Laboratory Practice: Establish the paradigm of genomic medicine by issuing statements and evidence-based or … (DECIPHER, the DatabasE of genomiC varIation and Phenotype in Humans using …
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… (Accepted). 2. Ariani Y, Soeharso P et al. Genetic and genomic medicine in Indonesia. 2017 (In preparation). 3. … preparation). 5. Ariani Y , Priambodo R et al. Ancestral diversity; a global challenge to future disease … birth defect registry; Developing web -based birth defect database; Developing rare disease integrated clinic in the …
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… for Mendelian Genomics (CMG) —Purpose: to identify the genomic bases of at least ~300 Mendelian disorders that … represent a broad range of phenotypes; to understand the genomic characteristic s of Mendelian disorders as a class ; … human genome reference). These will be chosen so as to add diversity to the haplotype representation in human genome …