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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… some cases, more comprehensively analyze and interpret DNA sequence information from cancer patients. They have … Exploratory Research program at the National Human Genome Research Institute (NHGRI), and the National Cancer … cancer patient's protein-coding exome, the portion of the genome where many key cancer-related genes are located. …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic … and 1000 Genomes Projects, which specifically sought to sequence the genomes of people from diverse backgrounds. … …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National … insights into the non-coding regions of the human genome. During the COVID-19 pandemic, NISC helped researchers … Consortium to help produce the first complete human genome sequence and a more diversely representative human genome …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with … more population diversity than the previous reference sequence. … The original human genome reference sequence was …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… YV, Oetting WS, Pavan WJ, Adams DR. Haplotype-based analysis resolves missing heritability in oculocutaneous … J.C., Green, E.D. Parallel construction of orthologous sequence-ready clone contig maps in multiple species . Genome Research , 12:1277-1285. 2002. Thomas, J.W., LaMantia, …
Educational Resources
A contig is a series of overlapping DNA sequences used to make a map that reconstructs the original DNA sequence of a chromosome or a region of a chromosome.
… used to make a map that reconstructs the original DNA sequence of a chromosome or a region of a chromosome. … DNA … of cloned segments of DNA across a genomic region, while a sequence contig provides the actual DNA sequence of a genomic region. … A contig is a series of …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. As usual, … in biology is understanding how genomic variation affects genome function to influence phenotypes. NHGRI recently …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
… Cristina Kapustij, M.S., is chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute. Ms. Kapustij spearheads the … John Dingell, and at Duke University’s Center for Genome Ethics, Law and Policy where she was also a member of …