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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. … While these technologies are sometimes referred to as whole-genome or whole-exome sequencing, they don't cover 100 …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… researchers used a variety of methods, including PacBio sequencing , which was released in 2011. Dr. Phillippy and … of folded DNA in the nucleus of each cell. "PacBio sequencing, optical mapping and Hi-C have all been used for … They are also investigating emerging "nanopore" genome sequencing methods for the real-time diagnosis of human …
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
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing … This includes a number of coordinated large scale sequencing projects such as the HapMap and 1000 Genomes … previously thought. … genetic diversity, ancestry, genome sequencing, Lawrence Brody … North Asians may be more closely …
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 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
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.