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Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI … physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. Biesecker, … of patients would be getting clinical genome and exome sequencing." Exome sequencing amounts to an abridged version …
Educational Resources
Transcription is the process of making an RNA copy of a gene sequence.
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… variants with clinical implications by using the latest sequencing technologies to examine rare and common variants … a disorder involving the immune system. They will use DNA sequencing to examine the genetic make-up of 2,500 … to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how …
Staff
Dr. Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… Director with overall responsibility for the NHGRI Genome Sequencing Program (GSP), and specific responsibility for the … and assessing progress, selecting and coordinating new sequencing projects, policy related to deposition and release … … Adam Felsenfeld, Ph.D. … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … …
Educational Resources
A codon is a trinucleotide sequence of DNA or RNA that corresponds to a specific amino acid.
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.
… Steps! Credit: Ernesto Del Aguila III, NHGRI Fully Sequencing the Human Genome Credit: Harry Wedel, NHGRI … Aguila III, NHGRI. B-roll Footage of NIH Intramural Sequencing Center Lab … News … Papers … News Coverage … …
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.