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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Research Funding
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.
… of California, San Francisco Spatial multiomic mapping of gene function with CRISPRoff UM1 HG012660 Data Resource and … Hutchinson Cancer Center Statistical Methods for Inferring Gene-Phenotype Associations Using Omic Data from Gene Knockout and Human Phenotype Studies U01 HG013177 … The …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… multiple common disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, …
About Genomics
An interactive timeline listing key moments from the history of the project.
… first tool that researchers use to find a disease-causing gene. These maps identify the general area of the chromosome that contains the gene.  1995 Human Genome Project researchers publish a …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… (Alliance), Model Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain … into clinical utility. … The Model Organism Databases and Gene Ontology (GO) Consortium resources serve as well-curated … and variants, human disease associations, pathways, gene expression, and both protein–protein and genetic …
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.
… Duke University High-throughput functional annotation of gene regulatory elements and variants critical to complex … resource of functional elements, TF footprints and gene regulatory interactions HG011986 Ansuman Satpathy … autoimmune diseases affect genome function and gene expression in human germinal centre B cells. They are …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood cells and … before birth (during fetal development). After birth, a gene that codes for a blocking protein (BCL11A) is turned on. … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… encyclopedia: linking DNA elements, chromatin state, and gene expression in 3D U01 HG009395 Alkes Price Soumya Raychaudhuri … Brenton Graveley, University of Connecticut Health Center Gene Yeo University of California, San Diego Guo-Cheng Yuan …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… to a stratified random-sampling strategy based on gene density and level of non-exonic conservation. The … and bottom 50 percent - along each of two axes: 1) gene density and 2) level of non-exonic conservation with … detail, the stratification criteria were as follows: Gene density: The gene density score of a region was the …