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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers developed a technique that will aid in a more accurate reconstruction of human genomes.
… a genome from the much smaller pieces of DNA that sequencing machines are able to read, much like putting … For example, the Angus breed evolved to produce a very high-quality beef product, while the Brahman breed, emerging … technology. The parents' genomes are first sequenced using high-accuracy short reads to determine which parts of their …
Talking Glossary
The genome reference sequence provides a general framework and is not the DNA sequence of a single person.
Talking Glossary
RNA-seq, short for RNA sequencing, is a method for sequencing an entire set of RNA molecules.
… RNA-seq (RNA Sequencing) … RNA-seq, short for RNA sequencing, is a method for sequencing an entire set of RNA molecules. … RNA-seq, short …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center … Maryland. … "Bob's dedication to his work is sky high, only matched by his competence," said Eric Green, M.D., … 1990, first at Bethesda Research Labs (later re-named Life Technologies, Inc.) and now at NISC. A fourth-generation …
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 … of funds. … The two universities will become the DNA Sequencing Core sites for the UDN. The UDN also includes … programs that are expected to have exceptionally high impact. The goals of the program are to investigate …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… related to those drugs.With the advent of new DNA sequencing technologies, some of the tests for which microarrays were used in the past now use DNA sequencing instead. But microarray tests still tend to be …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… and the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research … unassuming location houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… and National Cancer Institute Deputy Director for Advanced Technologies and Strategic Partnerships Anna D. Barker find … genome analysis technologies, including large-scale genome sequencing. … The Cancer Genome Atlas … The Cancer Genome … genome analysis technologies, including large-scale genome sequencing. … Effort to accelerate understanding of the …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… Over the past two decades, researchers developed new technologies to read longer stretches of DNA - from only … genome sequence until new laboratory and computational technologies were developed. It took almost twice as long to … 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.
… sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as well as …