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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Educational Resources
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three.
… number of deleted base pairs is not divisible by three. … Genetic Mutation, Base Pairs, DNA Sequence … A frameshift …
Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… acid. … Nonsense Mutation, Missense Mutation, Base Pair, Genetic Code, Genetic Mutation … A nonsense mutation occurs in DNA when a …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… Mutation … A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during … A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during … exposure to mutagens or a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to …
Educational Resources
A point mutation is when a single base pair is altered.
… base pair is added, deleted or changed. While most point mutations are benign, they can also have various functional …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… position in the resulting protein. Some missense mutations alter the function of the resulting protein. … A …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… that these cells are prone to increased numbers of genetic mutations. A new study by scientists at the National Human … were reprogrammed and in cells that were subcloned. M ost genetic variants detected in the iPSCs and subclones were …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… researchers and their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that … a 45 percent five-year relative survival rate. "Genomic mutations that contribute to clear cell endometrial cancer … cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
… … Deletion is a type of mutation involving the loss of genetic material. … Genetic Mutation, Base Pair, DNA, Chromosome … A deletion, as … … Deletion is a type of mutation involving the loss of genetic material. … Educational Resources …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … then analyzed the data to find "putative," or presumed, mutations that would almost certainly lead to a genetic condition. … Out of almost 1,000 volunteers whose …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. … Genetic Mutation, Genes, Alleles, Recessive, Dominant … A … an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not …