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News Release
Researchers developed a technique that will aid in a more accurate reconstruction of human genomes.
… a genome from the much smaller pieces of DNA that sequencing machines are able to read, much like putting … For example, the Angus breed evolved to produce a very high-quality beef product, while the Brahman breed, emerging … technology. The parents' genomes are first sequenced using high-accuracy short reads to determine which parts of their …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… tested for during pregnancy. New research suggests sequencing all 24 chromosomes to uncover other, rare … risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. … Rare Autosomal Trisomies, Revealed by Maternal Plasma DNA Sequencing, Suggest Increased Risk of Feto-Placental Disease …
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
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 …
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 … a healthier life. Negative aspects: Finding out you have a high predisposition (80% of developing it) for something like … information from genetic testing to children with a high probability of adult-onset disease. From rdflme Is the …
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.