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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Developmental Genotype-Tissue Expression (dGTEx)1
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, … … A promoter, as related to genomics, is a region of DNA upstream of a gene where relevant proteins (such as RNA …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… involves one of two or more variants of a particular DNA sequence. … Base Pair, Deoxyribonucleic Acid (DNA), Genotype, Mutation, Phenotype … Polymorphism, as … to the presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding … as cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities for … the genes and genomic variants - spelling differences in DNA - that cause or contribute to disease, which may …
Educational Resources
A codon is a trinucleotide sequence of DNA or RNA that corresponds to a specific amino acid.
… Codon … A codon is a trinucleotide sequence of DNA or RNA that corresponds to a specific amino acid. … Codon, DNA, Nucleotide, Genetic Code, ACGT, Gene, Base Pair … A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
… Cristina Kapustij, M.S., is chief of the Policy and Program Analysis Branch at the National Human Genome Research … research grant titled, "Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening." She directed … and researched the societal implications of the DNA sequencing of newborn blood spots. Ms. Kapustij has also …
Educational Resources
A tandem repeat is a sequence of two or more DNA base pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome.
… Repeat … A tandem repeat is a sequence of two or more DNA base pairs that is repeated in such a way that the … … Base Pair, Chromosome, Deoxyribonucleic Acid (DNA), DNA Fingerprinting, Non-Coding DNA … A tandem repeat is a …
Educational Resources
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism.
… deactivation of genes without any change in the underlying DNA sequence of the organism. … Heritability, DNA, DNA Sequence, DNA Methylation … Epigenetics (also sometimes …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) Project is a worldwide effort to … phase, the ENCODE Project has added millions of candidate DNA “switches” from the human and mouse genomes that appear … on, and a new registry that assigns a portion of these DNA switches to useful biological categories. The project …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… Ph.D. … Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively … collected from 300 healthy adult men and women. They used DNA sequencing technologies adapted from those first … and disease … Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively …
Educational Resources
Southern blotting is a laboratory technique used to detect a specific DNA sequence in a blood or tissue sample.
… is a laboratory technique used to detect a specific DNA sequence in a blood or tissue sample. … Deoxyribonucleic Acid (DNA), Electrophoresis, Northern Blot, Probe, Restriction Enzyme, Western Blot … Southern blot analysis is a laboratory method used to study DNA. …