Search Results
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
… synthesis, the power of the yeast model system, and high-throughput phenotyping and genotyping to generate and study … Biology and Genome Engineering Section, where he is using high-throughput methods to address important questions in …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… to identify putative candidate regulatory elements with high likelihood of functional links to disease-relevant gene … function using bulk and single-cell CRISPR-interference screening and base editing.  Thouis Ray Jones, Broad … of well-known human neuronal cell lines and high-throughput functional modeling of genomic variation …
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.Â
… 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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Review 1. Testing and managing iron overload after genetic screening-identified hemochromatosis 2. Actionable genotypes … disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … newborns for whole-genome sequencing Population genomic screening for common hereditary conditions may be cost …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… patients with GD and other lysosomal disorders. Additional screening using mutant enzyme from patients with GD … O, Southall N, Choi JH, Marugan J, Austin CP, Sidransky E. High throughput screening for small molecule therapy for Gaucher …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… 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 …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… between mammalian and zebrafish hematopoiesis. Using a high-throughput reverse genetic screening system they generated a fish line carrying a … as an inhibitor of CBF leukemia through quantitative high-throughput screen against RUNX1-CBFß interaction. Proc Natl …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… Research Institute (NHGRI). Jyoti spent 17 years in a high-throughput DNA sequencing lab at the NIH Intramural …
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data HG006370 … the IMPC to additionally phenotype at least 1,200 of 3,000 high-priority genes known to exist in both humans and mice. …
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 …