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Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … and international chemical biology consortia. … High throughput technologies enable assays of biochemical, …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… disorder. Dr. Stewart is leading a project which uses new high-throughput sequencing technologies to identify, catalog and … tumor-predisposition disorders, neurofibromatosis, high-throughput sequencing technologies … Dr. Douglas Stewart …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing identifies novel … … James Thomas, NIH Intramural Sequencing Center (NISC), high-throughput sequencing, comparative genomics, data …
Staff
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 …
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. …
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. …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.  The following questions were answered during the meeting.
… the panel address the social structural ramifications of screening based on race and/or genetic ancestry? Recognizing … screening come before our ability to discern clinically high-risk people? Or address the disparities on the back-end … the history of the harms that have been incurred by high-risk populations who bear the burden of disease in this …