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News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's corresponding …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… social psychology from the University of California, Santa Barbara, where she studied at the Research Center for Virtual … and Behavior at the University of California, Santa Barbara. There, she honed her expertise in examining virtual …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, … Riebow N, Schandler K, Schmidt B, Sison C, Stantripop M, Thomas J, Thomas P, Vemulapalli M, Young A, Mullikin JC, Gnanakaran S, …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… in 1780 by John Adams, James Bowdoin, Benjamin Franklin, Thomas Jefferson, and George Washington, and has included Alexander Graham Bell, Margaret Mead, Jonas Salk, Barbara McClintock, John F. Kennedy, Martin Luther King, Jr., …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… University of California, San Francisco Pui Kwok, Barbara Koenig, Mary Norton, Anne Slavotinek Genomic … University of California, San Francisco Gloria Peterson, Barbara Koenig, and Susan Wolf Disclosing genomic incidental …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… characteristics of the cancer. The researchers, led by Thomas Giordano, M.D., Ph.D., University of Michigan, Ann …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… of Reported Disease Variants in Asymptomatic Individuals Barbara Elizabeth Engelhardt, Ph.D., Duke University, Durham, …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… including Dr. Francis Collins. … In 1986, geneticist Thomas Roderick, Ph.D., sat with about 10 colleagues in a bar …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… branch at NICHD. The newly awarded study sites include: Thomas Bell, Ph.D., National Disease Research Interchange, …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… K, Steinberg SM, Wei JS, Guha U, Turner CE , Khan J, Thomas A. Whole-exome sequencing reveals germline-mutated …