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Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing … DNA biorepositories, electronic medical record (EMR), high-throughput genetic research, genomic medicine … Dr. Robb …
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … See the Frequently Asked Questions for … a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , … and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting discussed the current state of population genomic screening in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical practice and outcomes, various …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… reporting of secondary findings not included in the screening protocol at the end of the study as consistent with … the services will be offered also in Spanish? Offering screening in Spanish is a possibility to be discussed by the … to all three elements (a, b, and c) to participate in the screening, or is it possible for them to proceed with testing …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Jeannine Mjoseth … Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic … false-positive results. … Women often request noninvasive screening tests to detect genetic conditions. These tests, … risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
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 …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… in Human Cells: Systematic Development and Testing with High-Throughput Methods Lacramioara Bintu, Ph.D. Stanford University 10:10 a.m. High Throughput, Multiplexed Epigenomic Profiling of Primary …
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 …