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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.
… variant function at scale HG011969 Jesse Engreitz Thomas Quertermous Stanford University Stanford Center for … Elements and Gene Activity HG012076 Seyed Mortazavi Barbara Wold UC Irvine California Institute of Technology …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… Deming C, Conlan S, Zellmer CJ, Michelin AV, Lee-Lin SQ, Thomas PJ, Park M, NISC Comparative Sequencing Program, … Dekker JP, Lau AF, Khil, P, Odom, RT, Deming C, Park M, Thomas PJ, NISC Comparative Sequencing Program, Henderson, … 854-866. 2016. [ PubMed ] Conlan S, Park M, Deming C, Thomas PJ, Young AC, Coleman H, Sison C; NISC Comparative …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… 2-day Genome Results in Acutely III Newborns Jennifer Puck Barbara Koenig Pui-Yan Kwok University of California, San …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… expression. Science , 299(5607):697-700. 2003. [ PubMed ] Thomas J.W., Touchman J.W., Blakesley R.W., Bouffard G.G., … S.M., Margulies E.H., Blanchette M., Siepel A.C., Thomas P.J., McDowell J.C., Maskeri B., Hansen N.F., Schwartz … Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… - 3:00 p.m. Focus Discussion 1 Moderators: Len Pennacchio Barbara Wold Andrea Califano What can NHGRI do to facilitate … Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle Moderator: …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… 2016. [ PubMed ] Conlan S, Park M, Deming C, Thomas PJ, Young AC, Coleman H, Sison C, NISC Comparative … Nature, 513(7520):59-64. 2014. [ PubMed ] Conlan S, Thomas PJ, Deming C, Deming C, Park M, Lau AF, Dekker JP, … Y-C, Boitano M, Dayal J, Brooks SY, Schmidt B, Young AC, Thomas JW, Bouffard GG, Blakesley RW, NISC Comparative …
News Release
NHGRI, NMNH and the NIH Foundation will present a symposium on the future of genomics, health, and the impact of genomics globally.
… registrants. Carolyn Hax, Washington Post Advice Columnist Barbara Bowles Biesecker, Ph.D., Director, Genetic Counseling …
MINC
The MINC teams were made up of an administrator and an educator. They learned a lot from this initiative that they wanted to share with you.
… Barbara Tilden, Educator, MSN, RN, BC & Donna Chase, … this effort? What other recommendations do you have? … Barbara Tofani, Administrator, RN, MSN Administrative …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… Health at Icahn School of Medicine at Mount Sinai Barbara Koenig, Ph.D., R.N., professor emeritus of medical …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Kwon JH, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH Tifft CJ. … M.D. — Internal Medicine, San Diego, CA Laura Meissner — Thomas Jefferson School of Medicine, Philadelphia, PA Lindsay … Yoon — Georgetown University School of Medicine Sarah Thomas, MPH—University of Colorado Yvonne Latour, Ph.D. — …