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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.
… in trying to implement genomic data in medicine," said James Evans, M.D., Ph.D., Bryson Distinguished Professor of … genome variants and disease, identifying genome variants, James Evans M.D., Ph.D., genomic mutations and disease, Teri …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… enrich the data that result from CSER2," said Regina Smith James, M.D., director of Clinical and Health Services … CSER2, CSER, Lucia Hindorff Ph.D., Regina Smith James M.D. … NIH is awarding $18.9 million towards research …
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., … H, Giresi PG, Goldy J, Hawrylycz M, Haydock A, Humbert R, James KD, Johnson BE, Johnson EM, Frum TT, Rosenzweig ER, … Baishali Maskeri, Jenny McDowell, Casandra Montemayor, James Mullikin, Morgan Park, Nancy Riebow, Karen Schandler, …
Staff
Dr. Eric D. Green is the Director of the National Human Genome Research Institute at the National Institutes of Health.
… SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, … human chromosome 7. Nature , 424:157-164. 2003. [ PubMed ] Thomas JW, Touchman JW, Blakesley RW, Bouffard GG, … SM, Margulies EH, Blanchette M, Siepel AC, Thomas PJ, McDowell JC, Maskeri B, Hansen NF, Schwartz MS, …
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 …
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 …
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. — …
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Sarah Bates Mary Beth Gardiner Jill Thomas Britny Kish Illustrations/Animations: Darryl Leja …
Fact Sheets
El ADN, son las instrucciones que se pasan de los organismos adultos a sus descendientes durante la reproducción.
… del ADN se aclaró en 1953 gracias a la labor de James Watson*, Francis Crick, Maurice Wilkins y Rosalind … pasar información biológica de una generación a otra. * James Watson fue el primer director del NHGRI y aparece aquí …
Data Sharing
The NHGRI Data Sharing Governance Committee is responsible for the activities necessary for the Institute to implement and maintain NIH and NHGRI data sharing policies.
… Ph.D., MPH Co-chair Division of Genomic Medicine Barbara Thomas, Ph.D. (DAC Chair) Co-Chair Division of Extramural …