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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
The Genomics Landscape
In the September 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how social media provides NHGRI staff with a space to talk about their work, make genomics topics easy to understand, and show how genomics can positively affect people.
… to the array of updates about the many happenings at NHGRI and in genomics, I would like to draw your attention to … as genomic medicine, polygenic risk scores, bioethics, genome sequencing, diversity of the genomics workforce, and … of extra COVID-19 vaccine dose in people with autoimmune disease Upcoming Videocasts Ninety-fourth meeting: National …
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… Concept Clearances for the NHGRI Genome Sequencing and Analysis Program National Advisory Council for Human … Do more Genome Function, esp. Related to Interp. of Variants Concepts for Clearance Structure of Biology of …
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… to date 3 pathways: protein processing, inflammation and lipids Alzheimer’s Disease Introduction 4 • Aging … 5 Drivers of Discovery 6 • 1,795 Icelanders had whole genome sequencing • Coding mutation (A673T) in the APP gene … decline in ‘normal’ elderly Low frequency and rare variants Alzheimer Disease Sequencing Project: ADSP • …
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… For more information please visit: genome.gov/mini | email: ministudy@nih.gov National Human … Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? Coronavirus 2019 … differences in individuals with mitochondrial disease and potential COVID-19 infection. Our goal is to understand …
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… 2014/2015 Genome Sequencing Program Concepts Sept ember 2014 Meeting of … NHGRI workshop: Future Opportunities for Genome Sequencing and Beyond. For the September 8, 2014 meeting of the NACHGR, … Common D isease Variant Discovery —Purpose: to identify variants contributing to common diseases; to develop the …
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… Mendelian diseases in two main ways. The first is to use genome-wide sequencing (mostly whole exome sequencing) to … the discovery by disseminating the obtained knowledge and effective approaches, reaching out to individual … institutions in 33 countries. Data release x The causal variants published by the CMG can be browsed at …
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… 1 2014/2015 Genome Sequencing Program Concepts February 201 5 Meeting of … NHGRI workshop: Future Opportunities for Genome Sequencing and Beyond . At the September 8, 2014 , meeting of the … methods, and tools to lay a foundation for finding the variants underlying all Mendelian disorders. Mechanism: …
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… Institute for Biotechnology GM9 Focus•Characterizing and interpreting the clinical significance of variants of uncertain significance (VUS) Objectives•What … for return of incidental or secondary findings in clinical genome sequencing (ACMG)–33 genes with variants affecting …
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… Future Opportunities for Genome Sequencing and Beyond Concept Clearances for the NHGRI Genome Sequencing … Do more Genome Function, esp. Related to Interp. of Variants Comp. and Evo . Genomes Create Virtuous Cycle bet. …
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… Report'From'A'Planning'Workshop' ' for'the'National'Human'Genome'Research'Institute ' “ From'Genome'Function'to'Biomedical'Insight:'ENCODE'and'Beyond ”' March'10 I11,'2015' Executive'Summary ' … majority#of#common#variants#associated#with#disease#lie#outside#of#protein …