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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.
… Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, … Steps! Credit: Ernesto Del Aguila III, NHGRI Fully Sequencing the Human Genome Credit: Harry Wedel, NHGRI … the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
Educational Resources
A restriction enzyme is an enzyme isolated from bacteria that cuts DNA molecules at specific sequences.
About Genomics
February 15, 2021 marks the 20-year anniversary of publications reporting the draft human genome sequence.
… era in biomedicine that has since achieved ever-dropping sequencing costs, improved diagnosis of genetic disorders and … NHGRI historian, about the significance of the “initial sequencing and analyses of the human genome” paper published …
News Release
On June 26, 2000, nearly 10 years into the 13-year project, President Bill Clinton announced an important milestone for the Human Genome Project at a major White House ceremony.
… Richard Wilson, Ph.D., who was co-director of the Genome Sequencing Center at Washington University School of Medicine … Ph.D., a Celera Genomics scientist at the time. "The high praise and expectations for the positive impact of the human genome on medicine established that day set a high bar for the field." Perhaps the most vivid memory of …
Educational Resources
Polymerase chain reaction (PCR) is a laboratory technique used to amplify DNA sequences.
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… and bioinformatic challenges facing individualized genome sequencing in a clinical research setting. Once they … receptor) mutations thought they just had garden variety high cholesterol, when in fact they had familial … They have only recently been able to address it as DNA sequencing costs have plummeted. At this rate, just above 9 …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… development ecosystem. Until recently, almost all genome sequencing methods required researchers to extract DNA from a … finding compelling ways to work around the complexities of sequencing complete genomes. Liu is one of those researchers. … extensive NHGRI support. The group is working to generate high-quality, complete human genome sequences representing …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.