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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).
… Single Molecule Detection of RNA Modifications Sara Rouhanifard, Ph.D. Northeastern University 10:00 a.m. … Single Molecule Detection of RNA Modifications Sara Rouhanifard, Ph.D. Northeastern University 10:00 a.m. … Moderators: Qi Qiu, Ph.D., University of Pennsylvania and Sara Olson, University of Connecticut Health Center 1:15 p.m. …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia University 2:00 p.m. to 2:20 …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… for structural and functional genomics    1:25 p.m. -  Sara Mathieson, Ph.D. , Haverford College Automatic …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Diagnosis Amanda Higgs, M.G.C. Jenna Plamondon, M.Sc. Sara Shelley, M.S. Walter Reed National Military Medical …
File
… Determinants: The Case of Down Syndrome and COVID-19 - Sara Bergstresser (Oct. 2022) …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC. Towards a more representative morphology: clinical …
File
… data on a biennial basis for reporting purposes.  Dr. Sara Hull, Chair, NHGRI Institutional Review Board coordinates …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Community, and Clinical Stakeholder Engagement Co-Chairs: Sara J. Knight (HudsonAlpha) and Amanda Gutierrez (Baylor) …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… PubMed ] Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, et al. The TNF receptor-associated periodic fever …
Strategic Vision
Staff within the institute and colleagues in the genomics community organized and contributed to the >50 events associated with the strategic planning process (e.g., town halls, dedicated workshops, conference sessions, and webinars) and provided critical feedback.
… Gilchrist NHGRI Lucia Hindorff NHGRI Rebecca Hong NHGRI Sara Hull  NHGRI Sonya Jooma NHGRI Cristina Kapustij NHGRI Laura …