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A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective … Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology … A collaborative …
Educational Resources
Southern blotting is a laboratory technique used to detect a specific DNA sequence in a blood or tissue sample.
… sequence in a blood or tissue sample. … Deoxyribonucleic Acid (DNA), Electrophoresis, Northern Blot, Probe, …
Educational Resources
Recombinant DNA Technology is a technology that uses enzymes to cut and paste together DNA sequences of interest.
… DNA sequences of interest. … Cell, Deoxyribonucleic Acid (DNA), Enzyme, Gene Expression, Restriction Enzyme, …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at … in 2009. She continued as a Staff Clinician in the Organic Acid Research Section and became a Clinician Associate … work on mitochondrial stress she joined the Organic Acid Research Section (OARS), NHGRI, in 2009 to understand …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… genome was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of … from whole genome shotgun assemblies or obtained by direct sequencing of BAC clones, are submitted and updated … pilot project data production involves the generation of sequencing information from a number of different genomes in …
News Release
Jeffery Schloss, Ph.D., founding director of the Division of Genome Sciences, is embarking on a new journey: retirement.
… from a successful career that included leading NHGRI's DNA Sequencing Technology Development Program. He also aided in … portfolio of grants involved in developing a range of nucleic acids-related technologies - in particular, DNA sequencing technology and the well-known $1,000 Genome …
Educational Resources
Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes.
… recognized by restriction enzymes. … Deoxyribonucleic Acid (DNA), Electrophoresis, Genetic Marker, Polymorphism, …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … advances in methods, technologies, and instruments for nucleic acid sequencing and genotyping, and new approaches for …