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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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… Services National Institutes of Health National Human Genome Research Institute Teri Manolio, M.D., Ph.D. National Advisory Council on Human Genome Research February 10, 2014 National Academy of … Initiative to create national framework for clinical exome sequencing • Singapore: Pilot of TGFB1 testing for disease …
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… Program Renewal National Advisory Council for Human Genome Research September 8, 2014 1 • “Solve” Mendelian … or most Mendelian disorders 2 1. Demonstrated the power of sequencing at scale for solving Mendelian disorders 2. … Mendelian disorders • New features − Implementing whole genome sequencing − Performing small-scale function assays • …
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… ☐Individual Phenotype ☐Individual Genotype ☐Individual Sequencing ☐Supporting Documents ☐Metagenomic … (.MAF) ☐Array CGH CNVs ☐Other (specify): Sequencing ☐Whole Genome ☐Whole Exome ☐Targeted Genome ☐Targeted Exome ☐Whole Transcriptome ☐Targeted …
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… ☐Individual Phenotype ☐Individual Genotype ☐Individual Sequencing ☐Supporting Documents ☐Metagenomic … (.MAF) ☐Array CGH CNVs ☐Other (specify): Sequencing ☐Whole Genome ☐Whole Exome ☐Targeted Genome ☐Targeted Exome ☐Whole Transcriptome ☐Targeted …
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… of years Ñ in a quest to establish a diagnosis. New DNA sequencing technologies are greatly expanding the number of … under study. Grant and Contract Updates The Clinical Genome Resource Project (ClinGen) Much of ACMGs involvement … cases with a main focus on the adaptation of exome or genome sequencing technology in clinical care Ñ from …
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… The Cancer Genome Atlas: A Decade of Discovery Carolyn M. Hutter, Ph.D. Acting Division Director Division of Genome Sciences, NHGRI National Advisory Council on Human … analysis technologies, including large - scale genome sequencing https://cancergenome.nih.gov/ 3 A Decade of …
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… the Advisory Committee on Health Research. 1. Genomics 2. Genome 3. World health 4. Delivery of health care 5. … . . . . . . . . . . . . . . . . . . 13 2. Genomics and the Genome Projects . . . . . . . . . . . . . . . . . . . . . . . … Foreword from the Director General The announcement of the sequencing of the human genome in 2001 rep- resents an …
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… ☐Individual Phenotype ☐Individual Genotype ☐Individual Sequencing ☐Supporting Documents ☐Metagenomic … (.MAF) ☐Array CGH CNVs ☐Other (specify): Sequencing ☐Whole Genome ☐Whole Exome ☐Targeted Genome ☐Targeted Exome ☐Whole Transcriptome ☐Targeted …
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… National Advisory Council for Human Genome Research Concept Clearances for Functional Genomics … at the March 10 -11, 2015, NHGRI planning workshop: From Genome Function to Biomedical Insights: ENCODE and Beyond. … across hundreds of individuals, along with whole-genome sequencing data, to help elucidate relationships between …
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… practice guidelines. Secondary Findings and Clinical Genome and Exome Sequencing: In early 2014 a survey was conducted of a ll ACMG … for Reporting Incidental Findings in Clinical Exome and Genome Sequencing". Fo llowing preliminary analysis of the …