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News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… in prenatal blood tests warrant whole-body MRI cancer screening. … In the fall of 2022, Erica felt like she was on … blood draw, they have quickly become routine in pregnancy screening. Each year, around two million pregnant people in … 107 participants with abnormal or inconclusive prenatal screening results that might indicate the presence of cancer. …
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 …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… at once is becoming increasingly possible with advances in high-throughput technologies and data science.  The integration of … processed at the omics production center, which will use high-throughput molecular assays to generate genomic, …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … different physical manifestations. With advances in high-throughput DNA sequencing over the last decade, more skeletal …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10:  Population Genomic Screening in Primary Care Pre-Application Webinar October …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… Using next-generation DNA sequencing, a fast and high-throughput method for sequencing nucleic acids (like DNA and … too much sugar circulating in the bloodstream. Prolonged high blood sugar levels can lead to heart disease, kidney …
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 …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… symposium titled, Genetic Epidemiology at Scale: High Throughput Genomics Linked to Large Scale HER Systems . … A 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown …