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Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a … (NIH) access to well established, high-throughput DNA sequencing, NISC works closely with NIH collaborators to … across the NHGRI Intramural Research Program to develop novel methods to analyze genomics data with applicability to …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… large genes have many regions where mutations can occur. For example, researchers believe that mutations in the genes … But there is not one specific mutation responsible for all of these cases. Researchers have already discovered … related to those drugs.With the advent of new DNA sequencing technologies, some of the tests for which …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… lipoprotein cholesterol levels, a major risk factor for heart disease. The study, published in the journal … . Humans need a certain amount of lipids in the body for normal function, but elevated lipid levels may increase … risk scores provide an estimate of an individual’s risk for specific diseases, based on their DNA changes related to …
Talking Glossary
Next-generation DNA sequencing (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the completion of the Human Genome Project (which relied on the first-generation method of Sanger sequencing).
… Next-Generation DNA Sequencing … Next-generation DNA sequencing (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the … (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the …
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.
… base pair causes the substitution of a different amino acid in the resulting protein. … Missense Mutation, DNA … base pair causes the substitution of a different amino acid in the resulting protein. … Educational Resources …
Educational Resources
Northern blot is a laboratory technique used to detect a specific RNA sequence in a blood or tissue sample.
… Laboratory Experiment, RNA Sequence, DNA, Deoxyribonucleic Acid … Northern blot is a laboratory analysis method used to …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … arrays to enable large-scale DNA sequencing efforts. For the past several years, nanopore research has been an … said. "NHGRI has had a hand in supporting some very novel research, and has helped chart exciting new directions …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… College of Wisconsin in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will … two universities will become the DNA Sequencing Core sites for the UDN. The UDN also includes seven clinical sites at …
Educational Resources
Non-coding DNA corresponds to the portions of an organism’s genome that do not code for amino acids, the building blocks of proteins.
… to the portions of an organism’s genome that do not code for amino acids, the building blocks of proteins. … DNA … to the portions of an organism’s genome that do not code for amino acids, the building blocks of proteins. Some … to the portions of an organism’s genome that do not code for amino acids, the building blocks of proteins. … …
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”
… Long-Read DNA Sequencing … While some sequencing technologies produce reads that are only a few … of thousands of nucleotides long, known as “long-read DNA sequencing.” … DNA sequencing technologies determine the …