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- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… greatly sped up the process of SNP discovery, first for The SNP Consortium Project and later in the International … sequence data. His primary interests are in developing novel and efficient algorithms using high-performance compute … changes resulting in synonymous or non-sysnonymous amino-acid changes, splice-site, etc); and has predicted effects of …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
… by the Human Genome Project and has eluded researchers for nearly two decades. The National Human Genome Research … answer press questions about the techniques, laboratory tools, computational analyses and strategic approaches that … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… The beginning of spring brings some good budgetary news for NIH and NHGRI. On March 11, the U.S. Congress passed a … approach of using the best-available technologies for sequencing DNA and pushing them to their absolute limits. In … long-read DNA sequencing methods and newer computational tools, aided researchers in sequencing the repeat-rich …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… of interest. … Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning … A physical map, as related … are also valuable in providing an organizational framework for generating complete sequences of genomes. … A physical …
Educational Resources
Polymerase chain reaction (PCR) is a laboratory technique used to amplify DNA sequences.
… used to amplify DNA sequences. … Deoxyribonucleic Acid (DNA), DNA Replication, Enzyme, Genome, Primer … … chain reaction (abbreviated PCR) is a laboratory technique for rapidly producing (amplifying) millions to billions of …
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… of DNA needed to turn a gene on or off. … Deoxyribonucleic Acid (DNA), Enzyme, Gene, Gene Expression, Gene Regulation, …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… BP. High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing … W. Thomas, Ph.D. … Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC). … James …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… DNA sequences. These sequences are much more challenging for scientists to characterize, and studying repetitive DNA … has only become possible in recent years due to new DNA sequencing technologies and analysis methods. These … among the primate Y chromosomes is their length. For example, the Y chromosome from the Sumatran orangutan is …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… Institute (NHGRI), part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome … CMG researchers have also developed and disseminated tools that enable scientists to rapidly discover such genes. … find genes that cause Mendelian diseases, with a focus on novel genes, she said. NHGRI, pending available funds, will …
Educational Resources
A restriction enzyme is an enzyme isolated from bacteria that cuts DNA molecules at specific sequences.
… at specific sequences. … Bacteria, Deoxyribonucleic Acid (DNA), Enzyme, Genetic Engineering, Recombinant DNA …