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- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Educational Resources
Pharmacogenomics is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing.
… is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development … and testing. … Amino Acids, Deoxyribonucleic Acid (DNA), Genetic Variation, Haplotype, Single Nucleotide … is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development …
Research Funding
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 … Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology … A collaborative large-scale …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… of Health will support research that incorporates DNA sequence information into electronic medical records. The … of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The … variants with clinical implications by using the latest sequencing technologies to examine rare and common variants …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… to me." … The human genome contains a massive amount of DNA. The human genome consists of about 3 billion bases in a … the air, saying "Phew, we did it!" … The last 8% needed a generation of dedicated genomic researchers 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.
… of two specific repeating sequences known as satellite DNA. It makes a beautiful, quilt-like pattern. All … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … pieces of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start in 1997 … then the transition in the mid-2000s from Sanger-based to 'next generation' DNA sequencing platforms. While keeping pace with …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, Genes, DNA Sequence … Genetic engineering (also called genetic …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing Informatics Tools … GS-IT provides sequence …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your genes play in your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, … of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med,  2015. [In Press]  …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
… an increase in the number of copies of a gene sequence. … DNA Sequence, Cancer, PCR, Polymerase Chain Reaction, …