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News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … of high-quality tissue samples and information on gene expression — important resources that scientists needed … many different tissues to understand the impact of genomic variation on complex traits and diseases.  But gaps in our …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …
Educational Resources
A genotype is an individual's collection of genes.
… BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA …
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… Promoter … A promoter is a sequence of DNA needed to turn a gene on or off. … Deoxyribonucleic Acid (DNA), Enzyme, Gene, Gene Expression, Gene Regulation, Messenger RNA (mRNA), …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… that has produced a valuable resource about human genomic variation," said Eric Green, M.D., Ph.D., director of NHGRI. … insights add to a growing understanding of the patterns of variation in individuals' genomes, and provide a foundation … Lisa Brooks, Ph.D., program director in the NHGRI Genomic Variation Program. "The 1000 Genomes Project data are a …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were … and canker sores. The strongest association was with the gene IL12A , which encodes an inflammation-related protein …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or … that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … The human genome is made … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is a collection of all the gene readouts present in a cell. There are various kinds of …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Ganguly, Ph.D. … The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. … $185 million over five years to the Impact of Genomic Variation on Function (IGVF) consortium, initiated and funded … investigators will work to understand how genomic variation alters human genome function, and how such …