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Research at NHGRI
The Immersive Simulation Program (ISP) provides expertise, tools, and support for the integration of emerging technology-based methods into health and medical research.
… to expand capabilities for innovative research including method and measure development. This work builds …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… Mongolian ancestry.  The principal component statistical method was used to map the relationships between different … 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 …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes … researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes … researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes …
News Release
Researchers developed a technique that will aid in a more accurate reconstruction of human genomes.
… databases than are currently available. … The Trio Binning Method Genome assembly computationally reconstructs 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 …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
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
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 …
News Release
Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources.
… with input from clinical educators and administrators, The Method for Introducing a New Competency in Genomics (MINC) … to an online toolkit with more than 100 resources. ​ … Method for Introducing a New Competency in Genomics, MINC, …