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Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… of neck vertebrae and hearing loss, Holt-Oram syndrome, abnormalities of the upper limbs and heart, Morning Glory syndrome, abnormalities of the optic disc or "blind spot", and … a gene involved in the development of DS is located on chromosome 2. Also, deletions of chromosomal material from …
Educational Resources
A plasmid is a small, often circular DNA molecule found in bacteria and other cells.
… Bacteria, Chromosome, Deoxyribonucleic Acid (DNA), Gene, Cloning, DNA …
News Release
Three practical strategies for reducing the risk of re-identification, the process by which anonymized personal genomic data are matched with the owner.
… nucleotide (an A, T, C or G) exists at a particular chromosome location in any genome in a given beacon, but …
Educational Resources
A vector is any vehicle, often a virus or a plasmid that is used to ferry a desired DNA sequence into a host cell as part of a molecular cloning procedure.
… Acid (DNA), Cloning, Virus, Plasmid, Yeast Artificial Chromosome (YAC), Genetic Engineering …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
15 Ways Genomics Influences Our World
Genomics is establishing more robust methods for DNA-based forensic analyses.
… often include markers from mitochondrial DNA and the Y chromosome. Children only inherit mitochondrial DNA from their mother, and sons only inherit the Y chromosome from their father. One example of the use of … Human Identification, Missing Persons, Crime Scenes, Y Chromosome, Mitochondrial DNA, DNA-Based Predictions …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… reported the first gapless sequence of the human X chromosome, the first truly complete human chromosome sequence. The study, published in the journal … comparisons NHGRI researchers generate complete human X chromosome sequence NHGRI-funded project creates encyclopedia …
Educational Resources
A histone is a protein that provides structural support to a chromosome.
… histone is a protein that provides structural support to a chromosome. … is a protein that provides structural support for a chromosome. Each chromosome contains a long molecule of DNA, which must fit …
Educational Resources
In situ hybridization is a laboratory technique in which a single-stranded DNA or RNA sequence called a probe is allowed to form complementary base pairs with DNA or RNA present in a tissue or chromosome sample.
… base pairs with DNA or RNA present in a tissue or chromosome sample. …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… of the first truly complete sequence of a human Y chromosome. While scientists completed ‘telomere-to-telomere’ … 23 human chromosomes last year, more than 50% of the Y chromosome’s sequence remained unknown. With this newly … finding previously unidentified genomic variants on the Y chromosome and, by studying these variants, will be better …