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… We need to talk! Genet Med. 2013 Nov;15(11):854- 9. 8. Biesecker LG., Opportunities and challenges for the … future of clinical genomics. Genome Medicine , 2014. 5. Biesecker & Green, Diagnostic clinical genome and exome … & Women’s Hospital Robert Green NHGRI ClinSeq Study Leslie Biesecker Children’s Hospital of Philadelphia Ian …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… tens of projects (Lagresle-Peyrou et al., Nat Genet 2009; Biesecker et al., Genome Res 2009; Kang et al. N Engl J Med … history. Mol Biol Evol , 26(5):1017-27. 2009. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, … NIH Intramural Sequencing Center, Chong K, Mullikin JC, Biesecker LG. Massively Parallel Sequencing of Exons on the X …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… - and when and how? You have to compute," said Christina Leslie, Ph.D., associate member of the Computational and … Johns Hopkins University, Baltimore, Maryland Christina Leslie, Ph.D.; Sloan Kettering Institute for Cancer Research, …
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.
… Julie Sapp Julie Segre Jyoti Dayal Kris Wetterstrand Les Biesecker Lisa Chadwick Lori Erby Lucia Hindorff Megan Cho …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… variants to ClinVar Sequence Variant Interpretation Leslie Biesecker Steven Harrison Support the refinement and …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. NAA10 polyadenylation signal variants cause … FD, O'Donnell CJ, Virmani R, Munson PJ, McVicar DW, Biesecker LG. Integrative DNA, RNA, and protein evidence …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… response to pathogens, primary mouse macrophages Christina Leslie, Ph.D. and Alexander Rudensky, Ph.D. Memorial Sloan …
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.
… KIAA0319 gene. PLoS Genet , 5:e1000436. 2009. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, … 2011. [ PubMed ] Teer JK, Green ED, Mullikin JC, and Biesecker LG: VarSifter: visualizing and analyzing … Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… Sullivan HK, Bayefsky M, Wakim P, Huddleston, K, Biesecker BB, Hull SC, Berkman BE. Views of Pregnant Women …