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Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different methods and strategies for sequencing genomes are of great interest because they influence the scope and scale of almost all genomics research projects. …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… Program aims to capitalize on growing availability of large-scale genomic and health record data worldwide to advance the science of … Research. The goal of the program is to develop and evaluate next-generation healthcare that uses … computation, and data science have enabled the growth of large genomic datasets, with DNA from hundreds of thousands …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… scientific questions, collect biological samples, purify and sequence the DNA and analyze the resulting data. The … 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, Maryland. …
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… Cristina Kapustij, M.S., has been named chief of the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research … In her new role, she will oversee policy activities and evaluation as well as program reporting and assessment to … Institutes of Health cooperative research grant titled, "Sequencing of Newborn Blood Spot DNA to Improve and Expand …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand … of genetic variants with a number of conditions and disorders, such as obesity and asthma. … examine the genome in many different ways, and include large patient data sets and diverse ancestries." Some of the …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … Sequencing DNA means determining the order of the four … to determine which stretches of DNA contain genes and which stretches carry regulatory instructions, turning … the pairing also underlies the methods by which most DNA sequencing experiments are done. The human genome contains …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease to foster next-generation … tools ranging from high-throughput biologic methods, large scale informatics methods, classic bench laboratory …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program has funded … the expertise and flexibility to respond rapidly to the large number of emerging and evolving ELSI issues is … and funding mechanisms. The creation of research centers with the resources and expertise to design and …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… biologists, clinicians, bioinformatics specialists and others to provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … into the clinic. In addition to the long-established Large-Scale Sequencing and Analysis Center (LSAC) program, …