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News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to … get in there and start touching patient data." Through new sequencing technologies, data is accumulating in an … M.D., Ph.D. But how do we make sure that using genome sequencing for disease diagnosis, treatment and prevention …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… factors to consider. Now, researchers and clinicians are sequencing human genomes faster than ever, so considering the … Researchers and clinicians are sequencing human genomes faster than ever, so considering the … data and society, Lawrence Brody Ph.D., human genome sequencing, Reddit AMA …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… Credit: Ernesto Del Aguila III, NHGRI   Video: Fully sequencing the human genome Credit: Harry Wedel, NHGRI   …
Educational Resources
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.
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.
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
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 …