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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
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… … Researchers have made a good start in identifying and understanding genetic mutations that have evolved over thousands of years to protect Africans from disease-causing pathogens. Today, these same …
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 … in the addition of the wrong amino acids to the protein and/or the creation of a codon that stops the protein from …
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 …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… … Researchers have made a good start in identifying and understanding genetic mutations that have evolved over thousands of years to protect Africans from disease-causing pathogens. … Today, these same …
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 … a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to offspring, while somatic …
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
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… at the genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… since Japanese researchers Shinya Yamanaka, M.D., Ph.D., and his graduate student Kazutoshi Takahashi, Ph.D., … that these cells are prone to increased numbers of genetic mutations. A new study by scientists at the National Human …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can … have shown that African populations contain the oldest and most diverse set of human genes. However, most studies of … 2010, the National Institutes of Health (NIH) Common Fund and the United Kingdom's Wellcome Trust, in partnership with …