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Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… variants associated with blood lipid levels. … In a large-scale study of people from diverse ancestries, researchers … a powerful tool for studying risk of heart disease … In a large-scale study of people from diverse ancestries, …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening tests use a dried blood sample collected during the … characteristic that is indicative of a disease). … Newborn screening in the United States is a major public health … at birth with as much accuracy and speed as traditional methods? Is having a genome sequence from birth useful for …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… of genome sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that … technologies, research approaches, and data analysis methods, all while consistently emphasizing a strong …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… Koren researches algorithms for the efficient analysis of large-scale genomic datasets with a focus on genome assembly. … S*, Chin CS, Drake JP, Landolin JM, et al. Assembling large genomes with single-molecule sequencing and …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier Screening … Carrier screening is a genetic test performed on people who display … Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… comes to the position with extensive experience leading large-scale genomics research programs. Most recently, she … TCGA and other programs. "Working as a program director on large-scale projects taught me the value and rewards that …
About Genomics
An interactive timeline listing key moments from the history of the project.
… uses sequence-tagged sites as the landmarks to help order large segments of DNA. The map in 1995 is a significant … within 24 hours of being generated by federally funded large-scale human sequencing centers. The "Bermuda Principles" are …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide synthesis … Microarray: Microarrays are devices used in many types of large-scale genetic analysis. They can be used to study how large numbers of genes are expressed as messenger RNA in a …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… by 20 percent and split into four major components: the Large-Scale Sequencing and Analysis Centers (LSAC) program; the … include: What are the key scientific opportunities for large-scale genomics efforts - in both genome sequencing and …