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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
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.
… The primary mission of the Alliance of Genome Resources (Alliance), Model Organism Databases (MODs), … (GO) Consortium is to develop and maintain sustainable genome information resources that facilitate the use of … and disease and to translate mechanistic insights from studies in model organisms for clinical applications. The …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions … sequencing in cancer: Clinical, ethical, and technological studies Patients who have clinical indications for colorectal … IT systems, and administration. We are studying consortium-wide measures of clinical utility from the perspective of …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Archive
… Genetic Association Information Network (GAIN) … Archive …
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… related to using DNA for identification purposes in a wide range of settings. … Overview … ELSI Publications and …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), which are both part of the … News Conference Webcast (2005) … TCGA Legacy: Multi-Omic Studies in Cancer September 27-29, 2018 The Cancer Genome …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… the ACMG guidelines . Pathogenicity Calculator To enable wide application of the ACMG/AMP and similar guidelines and … M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working … of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare … diseases. Understand how best to design rare variant studies for common disease. Develop resources, informatics … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… The human genome reference is used by essentially all researchers who need to align and assemble experimental or patient genome sequence data. It also serves as a consensus coordinate system for reporting results. The genome reference is therefore a critical resource for the …
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… Funded by the National Human Genome Research Institute (NHGRI) along with many other NIH … of the measures and data analysis downstream. Studies that use PhenX (consensus measures for Phenotypes and … and and members of the extramural community with a wide range of expertise. The NIH IC Liaisons are scientists …