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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.
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… organized and led an international consortium that used positional cloning to identify MEFV, the gene mutated in familial …
News Release
On June 26, 2000, nearly 10 years into the 13-year project, President Bill Clinton announced an important milestone for the Human Genome Project at a major White House ceremony.
Professional Development
This is a fellowship program designed for recent undergraduates to gain exposure to and training in multiple career paths that advance public service for human genetics and genomics.
File
… . . . . 167 8.8 Gene therapy, stem cell therapy and human cloning . . . . . . . . . . . . . . . . . . . 170 8.9 Summary … cloned and sequenced 1985 ÒDisease genesÓ isolated by positional cloning Polymerase chain reaction (PCR) 2000 The … first called reverse genetics and later re-christened positional cloning, led to the discovery of genes for many …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
Educational Resources
A contig is a series of overlapping DNA sequences used to make a map that reconstructs the original DNA sequence of a chromosome or a region of a chromosome.
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… proviral insertions as the mutagen, allowing for rapid cloning of the mutated gene. To date, this effort represents …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… of these syndromes, Dr. Biesecker's group initially used positional cloning, and more recently was in the forefront of using …