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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy) The name of the author The name … Legal Issues In Genetics, Social Issues In Genetics, Genetic Discrimination, … The ELSI Publications and Products …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… precision of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will … precision of predicting how individuals with pathogenic genetic variants manifest disease. … NHGRI aims to establish … precision of predicting how individuals with pathogenic genetic variants manifest disease. … Research Funding …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is … involve similar genes, pathways, and phenotypes. While the genetic basis of more than 5,000 Mendelian disorders has been … so far, many more Mendelian disorders and their underlying genetic basis have yet to be discovered. Recent advances in …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, …
About Genomics
An interactive timeline listing key moments from the history of the project.
… Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline … Huntingdon's disease, neurofibromatosis and other genetic disorders. More Francis Collins' Statement in … ahead of schedule. The goals include creating detailed genetic and physical maps, developing efficient strategies …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Fund project, GTEx (2010 - 2019), which investigated how genetic variation impacts gene expression in multiple tissues … (~12.5-18 years). This resource of gene-expression levels, genetic data, and samples will be broadly available for …
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.
… Brigham and Women's Hospital Predicting the impact of genetic variants, genes and pathways on human disease … modeling of the functional and phenotypic impacts of genetic variants HG012064 Anshul Kundaje Stanford University … context-specific molecular and phenotypic effects of genetic variation through the lens of the cis-regulatory code …
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.
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… to review and update protocols. … The toolkit uses statistics  demonstrate uptake by the scientific community. …
Research Funding
In May 2020, the NIH Common Fund launched the Bridge to Artificial Intelligence (Bridge2AI) program to set the stage for the widespread adoption of artificial intelligence (AI).