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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 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 … Trio binning takes advantage of the newest generation of sequencing technology that can "read" much longer areas of … a suspected genetic disease, the clinician will order DNA sequencing for their patient to identify where in the genome …
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 … Rare Autosomal Trisomies, Revealed by Maternal Plasma DNA Sequencing, Suggest Increased Risk of Feto-Placental Disease … … Extended Analysis Yields Results … Related Content … Sequencing all 24 human chromosomes uncovers rare disorders … …
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 … of genomics research … 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 … Researchers and clinicians are …
Educational Resources
A carcinogen is an agent with the capacity to cause cancer in humans.
… with the capacity to cause cancer in humans. … Cancer, Tumor, Genetic Mutation, Chemical … A carcinogen is a …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… cells can look under a microscope, even when from the same tumor. The researchers hope that the new classification … They used six molecular analysis platforms including DNA sequencing, RNA sequencing, and protein arrays. Tumors in the … quieting genes that should be active. In the EBV-positive tumor subgroup, hypermethylation was most often observed in …
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.
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 …