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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
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… follows is an initial draft of the 2020 National Human Genome Research Institute (NHGRI) Strategic Plan, which will … a comprehensive view of genome function. The study of a wide 261 range of organisms continues to be instrumental for … region to integrating multiple data types 460 (e.g. association data, gene-expression information, model organism …
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… National Advisory Council for Human Genome Research … transcriptome analysis, and genome‐wide functional analyses. … ly) for, e.g., single cell/small samples and for population studies; in situ methods (tissue …
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… 10 new loci + SORL1 = 22 LOAD genes Stage 1: 1000G GWAS (8M SNPs) in 17,008 AD cases, 37,154 controls Stage 2: … 5 Drivers of Discovery 6 • 1,795 Icelanders had whole genome sequencing • Coding mutation (A673T) in the APP gene … objectives? • Power estimations • WGS versus WES Whole Genome Sequencing (30X) Families Number Caucasian families 42 …
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… National Advisory Council for Human Genome Research February 2017 Eric Green, M.D., Ph.D. … Center for Dynamic RNA Epitranscriptomes Document 29 GWAS Catalog Nature commentary highlights GWAS Catalog data … “Alcohol 30 Day Freq” measure Candidate Gene Association Resource (CARe) NEIGHBOR …
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… Higher Education, Received). 2017 - 2018. 6. Deniz E (PI). Genome -Wide Screening With CRISPR/Cas9 and Modelling of Resistance … NIH). 2. Adeoye AM , Rotimi CN and Adeyemo AA. Exploring association between lipids (or a panel of lipids -lowering …
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… Concept Clearances for the NHGRI Genome Sequencing and Analysis Program National Advisory … to learn general principles about how to approach these studies • Undertake and compare a range of designs (e.g., … $73M/year Huge sample collections available for RVAS Cases GWAS Cases GWAS Cardiovascular/Meta bolic Early Myocardial …
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… the R U N X1 Natural History Study at the National Human Genome Research Institute (NHGRI)! We’ve heard from a number … Study statistics so far What’s going on with the genetic studies? New additions to our protocol Accessing your NIH … detected on WES so far What’s going on with the genetic studies? One of the primary goals of our study is to …
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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 … and samples of people with mitochondrial disease for our studies. We may also enroll family members of the person with …
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… 2014/2015 Genome Sequencing Program Concepts Sept ember 2014 Meeting of … . With regard to common disease variant discovery, g enome–wide association studies have been effective in identifying com …
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… TD, Do GT, Dang TH, Nguyen VA, Nguyen TT Khanh T V, Ta TV. Association of the STAT4, CDKN1A and IRF5 Variants with Risk … Genitalia Resulting from Trisomy 14, Der(Y)T(Y;14). Human Genome Variation. 2020 Jul. (Accepted). 67. Sarimiye T, Monye … a Clinically Characterized DNA; Resource for Genome -Wide Association (GWAS) and Other Collaborative Genetic …