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The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… Institute of Technology University of California, Irvine High Precision Human and Mouse Transcriptomes UM1 HG009443 … William Greenleaf Michael Bassik Stanford University High-throughput systematic characterization of regulatory …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Gersbach Gregory Crawford Tim Reddy Duke University High-throughput functional annotation of gene regulatory elements … function using bulk and single-cell CRISPR-interference screening and base editing. Thouis Ray Jones, Broad Institute …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
…  one or two ‘Omics Production Centers that will utilize high-throughput molecular assays to produce: genomic, epigenomic, …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… the genome and epigenome. These platforms will enable high-precision engineering of both the nuclear and … these technologies will usher in a new era of safer, high precision and multiplexed genome and epigenome editing. … experiments. Our proposed research will deliver high-throughput, high-resolution, and high-sensitivity methods …
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.
… Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide synthesis DNA microarrays …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… in Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable genotypes and … disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … newborns for whole-genome sequencing Population genomic screening for common hereditary conditions may be cost …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… development phase of the project aimed to develop new high throughput methods to identify functional elements. The goal … was chosen because it is can be transfected with high efficiency and large quantities of these cells can be …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS) … of North Carolina at Chapel Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm … of Emerging Genomic Tests for Disease Management and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… who attended the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. … component projects specifically applicable to newborn screening: Acquisition and analysis of genomic datasets that … of specific disorders identifiable via newborn screening through promising new DNA-based analysis. Research …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disability and other serious problems. Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental disability, … in 1 in 10,000 to 1 in 15,000 newborn babies. Newborn screening has been used to detect PKU since the 1960's. As a …