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MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… and relationships of genes and regulatory elements in pathways and networks, which is one of the compelling genomic … and relationships of genes and regulatory elements in pathways and networks. MorPhiC Phase 1 will include three …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Predicting the impact of genetic variants, genes and pathways on human disease HG012009 Predrag Radivojac … and cell types, (2) identify causal mediator genes and pathways underlying disease variation, and (3) decode … consortium group to identify causal variants, genes, and pathways associated with cardiometabolic disease. Matthias …
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… system development.5. These microbial genes encode myriad metabolic capabilities.6. The human microbiome … of specific microbes and/or specific microbial metabolic pathways are characteristic of disease patients vs …
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… • Provides early warning that affects neonatal care • Metabolic disease • Definitive diagnosis for fetus/newborn … heterogeneous condition • Renal salt wasting, hypokalemic metabolic alkalosis. Secondary hyperaldosteronism • 2 … Expression Microarrays Step III: Dysregulated Signaling Pathways E15.5 brain Ts1Cje, Ts65Dn, Dp16Mouse models of DS …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… on complex and difficult-to-control endogenous DNA repair pathways. Collectively, these technologies will usher in a … robust, comprehensive exploration of genes and genetic pathways responsible for human disease in addition to the … disease or brain injury? What specific molecular pathways are disrupted in individual pediatric cancer cases? …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…  (2014)  Rare kidney tumor provides insights on role of metabolic changes in cancer r  (2014)  TCGA researchers …
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… Work Groups now meeting in the areas of pharmacogenetics, metabolic disease genetics, cardiovascular genomics, and … Session, held in conjunction with the Society of Inherited Metabolic Disorders meeting, featured joint plenary sessions, … explored follow-up sequence variants in genes in metabolic pathways, new approaches to metabolic testing, and how to …
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… cases, 11,312 controls ~25 LOAD genes identified to date 3 pathways: protein processing, inflammation and lipids …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… or more complex phenotypes that involve similar genes, pathways, and phenotypes. While the genetic basis of more …
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… development • Provide insight on functional networks and pathways • Understand how gene expression affects clinical …