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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. …
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
Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025.
… 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, …
Funding Opportunities
Funding Opportunities for Investigator-Initiated Research in Computational Genomics and Data Science
The Computational Genomics and Data Science Program Announcements (PARs) invite applications for investigator-initiated research efforts fostering innovation in computational genomics, data science, statistics, bioinformatics, and data visualization and exploration.
… genomic interval comparison HG012558  LANGMEAD, BENJAMIN THOMAS JOHNS HOPKINS UNIVERSITY Efficient and scalable … of nascent RNA sequencing data HG012944 GREENLEAF, WILLIAM JAMES STANFORD UNIVERSITY Fast powerful scalable usable and … analysis of complex tissues HG012639 RIGOUTSOS, ISIDORE THOMAS JEFFERSON UNIVERSITY Specialized Tools and …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… 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 …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
… of Cancer Genomics National Cancer Institute, NIH Cynthia James, Sc.M, Ph.D., CGC Associate Professor of Medicine …
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 …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) will hold its 11th annual meeting online on February 16, 2022.
… PMID: 34861173; PMCID: PMC8715140. Thomas SP, Amini K, Floyd KJ, Willard R, Wossenseged F, …