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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. …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) … potential benefits than established prenatal and newborn screening programs. Although the individual and public … are clear, scholars have long debated whether screening and sequencing technologies also perpetuate …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… association study of LDL response to statins using high-throughput electronic health records analysis 4113F Elizabeth … – 11:45 a.m. Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
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 …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain Convention … Molecular Affects of Genetic Variation Calibration set for high throughput functional assay for RYR1 Variants Board No. …
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 …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… elements, genes, and phenotypes; applying single-cell, high-throughput “omics” methods to study genes and regulatory …