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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.
… 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. … DNA Sequences, DNA Mapping, Chromosomes … studies; derived from the word “contiguous”) is a set of DNA segments or sequences that overlap in a way that provides …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… is trying to determine how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis (AD), also known as … child to join a research study of both healthy volunteers and patients with atopic dermatitis ("eczema") at the …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… of them indeed had the disease when researchers went back and carefully evaluated them, said Leslie G. Biesecker, M.D., … They have only recently been able to address it as DNA sequencing costs have plummeted. At this rate, just above … of how these mutations affect health. "We want to add DNA sequencing to the physician's toolbox," Dr. Biesecker …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… , scientists have set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how … yield important insights into the genome's working parts and how those parts are managed. … that make the genome work. Chemical tags that stick to the DNA impact chromatin organization and which genes are …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… if variants associated with dog body structure, behavior and life span could also be implicated in related human … "This study included data from more than 722 dogs and 144 modern breeds," says Dr. Ostrander, NIH Distinguished Investigator and senior author of the paper. "Through the results, we've …
Media Advisory
On April 25, 2023, NHGRI will host a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… On National DNA Day, the National Human Genome Research Institute … 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix. The event is free and open to the public. … Eunice Kennedy Shriver National Institute of Child Health and Human Development CEO Josh Denny, All of Us Research …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The … patient, then 3 years old, experienced fevers, skin rash and strokes that left her severely disabled. Because there … researchers showed that faulty variants in their patients' DNA that encode the CECR1 gene cause a loss of function of …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … for a new understanding of how inherited differences in DNA can contribute to disease risk and drug response. Of the … many of which affected genes, include deletions (loss of DNA), insertions (added DNA), and duplications (extra DNA …
Talking Glossary
Un codón de terminación es una secuencia de tres nucleótidos (un trinucleótido) en el DNA o el ARN mensajero (ARNm) que señaliza una parada en la síntesis proteica de la célula.
… una secuencia de tres nucleótidos (un trinucleótido) en el DNA o el ARN mensajero (ARNm) que señaliza una parada en la … una secuencia de tres nucleótidos (un trinucleótido) en el DNA o el ARN mensajero (ARNm) que señaliza una parada en la … una secuencia de tres nucleótidos (un trinucleótido) en el DNA o el ARN mensajero (ARNm) que señaliza una parada en la …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Genomic Variation on Function (IGVF) consortium, initiated and funded by NIH’s National Human Genome Research Institute … how genomic variation alters human genome function, and how such variation influences human health and disease. … alternate orders of the As, Cs, Gs and Ts that make up our DNA — combined with the environment and lifestyle ultimately …