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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 … has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for …
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 …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… research. Dr. Shawn Burgess' lab at NHGRI has developed a high-throughput pipeline that can create multiple, simultaneous …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
… recombination is that it is inaccurate and has a high rate of error when the injected DNA fragments insert … J., Xu, L. S., Gallardo, V., . . . Burgess, S. M. (2015). High-throughput gene targeting and phenotyping in zebrafish using …
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 …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… … Technological advances in DNA sequencing have made high-throughput sequencing methods significantly faster and …
Policies and Guidance
Frequently Asked Questions regarding the GDS Policy expectations for NHGRI-funded genomic research.
… molecular data produced by array-based technologies or high-throughput sequencing technologies. Data pertinent to the …