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News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… The stakes for identifying variants that matter can be high. "Mistakes are happening in the clinic based on … can potentially lead to misdiagnoses and unnecessary screening tests and treatments, including surgery. At the … New analytical, predictive modeling methods and high-throughput DNA sequencing technologies are needed to improve …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Jeannine Mjoseth … With assistance from a high tech robot, National Institutes of Health researchers … GBA1 break down cellular waste. In a process known as high-throughput drug screening, researchers at NCATS Chemical Genomics Center …
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
NHGRI researcher Dr. Julie Segre has been elected to the National Academy of Medicine, one of the highest honors in the fields of health and medicine.
… Ph.D., NHGRI Director.  Dr. Segre’s laboratory integrates high-throughput DNA-sequencing technologies, algorithm development …
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 …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… - are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology through new … remain in terms of containing costs and achieving a high quality of DNA sequencing data." This group of awards is … methods with biological nanopores to enable high-throughput sequencing. The latter refers to a very high rate …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… unassuming location houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start …
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 …
Event
The Advances in Genomic Technology Development (AGTD) 2023 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) in-person and virtually from Tuesday, June 6, until Thursday, June 8, at The Sanford Consortium for Regenerative Medicine, La Jolla, CA.
… Motone, Ph.D., University of Washington 2:50 p.m. Towards high accuracy nanopore sequencing of DNA and peptides with … San Diego Shawn Cai, Stanford University 2:45 p.m. High-throughput identification and characterization of human …