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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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. … …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… uncovers important genomic features with implications for fertility, such as factors in sperm production. The … along with the X chromosome, is often discussed for its role in sexual development. While these chromosomes … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … working with smaller pieces, each contains less context for figuring out where it came from, especially in parts of … these sequences before in our genome, and do not have many tools to test if the predictions we are making are correct. …