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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Institute have developed a number of software and analysis tools to help researchers around the world analyze and … in DNA amplicons. bam2mpg A Bayesian genotype caller for NextGen sequencing data. BuddySuite A collection of four … to both transcript quantification and the detection of novel transcripts. Var-MD An annotation and analysis tool for …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… produced by the sequencing centers. The GSPACs undertake novel, investigator-initiated computational analyses on GSP … . The GSPACs work closely with NHLBI's Trans-omics for Precision Medicine Program to harmonize joint variant … … Dna Sequencing, Genome Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data …
Educational Resources
Teaching tools to present the foundations of genomics to students and help them understand the impact of genomics in their lives.
… exciting future. Take advantage of our ready-made teaching tools to present the foundations to your students and help … the impact of genomics in their lives. … Genomics Teaching Tools … Teaching tools to present the foundations of genomics to your students …
Educational Resources
Microarray technology is a general laboratory approach that involves binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.”
… binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.” … … a specialized machine. Microarray technology can be used for a variety of purposes in research and clinical studies, …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome. … Deoxyribonucleic Acid (DNA), DNA Sequencing, Genome, Human Genome Project … …
Event
NHGRI will host a pre-application webinar for the Human Genome Reference Program (HGRP) Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO).
… Institute (NHGRI) will host a pre-application webinar for the Human Genome Reference Program (HGRP) Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO). Read the Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO): …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in … may expand the number of possible therapeutic targets for this disease and potentially identify a greater number of … Therapeutic Targets … Related Content … Study identifies novel genomic changes in the most common type of lung cancer …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… consider the possible size, scope and future opportunities for the National Human Genome Research Institute's (NHGRI) … (CSER) program; and the Genome Sequencing Informatics Tools (GS-IT) program. Major achievements in the most recent … human genomic variation. Identification of 500 or so novel genes involved in Mendelian disorders (rare, inherited …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
… (NHGRI), and other partners. … My Family Health Portrait For more than a decade the My Family Health Portrait tool has … important component of public health systems that screens for and serves populations at higher than average risk for … developed PHGKB as a suite of searchable databases, tools and resources to facilitate translation and …
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.
… The need for increased research to develop tools to translate genomic … workshops. ML/AI techniques have successfully identified novel patterns in non-genomic clinical datasets, receiving …