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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 … has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies. … It … Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic Technology … Genomic …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
Research Funding
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 …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… known, researchers can precisely knock out the gene at a high rate of efficiency. The advantage of gene trapping is … in gene trapping, a single vector can be used in a high throughput capacity to generate a suite of mice in which …