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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
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… with the responsible genes. … Marker, DNA Sequence, Gene, Inheritance … A marker (largely synonymous with the …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. … There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial. Focus on your thoughts and …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
Educational Resources
Non-coding DNA corresponds to the portions of an organism’s genome that do not code for amino acids, the building blocks of proteins.
… acids, the building blocks of proteins. … DNA Sequence, Gene Expression, Chromosome, Non-coding DNA, Junk DNA, Genetic … to serve functional roles, such as in the regulation of gene expression, while other areas of non-coding DNA have no …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 publications …
Educational Resources
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.
… synthesis. … Transcription, Base Pair, Cell, Cytoplasm, Gene, Gene Expression, Genetic Code, Messenger RNA (mRNA), Protein, …
Educational Resources
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family.
Health FAQ
Discuss these questions with your doctor or health care provider.
… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use … … Eligibility criteria may be different for each available gene therapies, including clinical trials. However, there are …