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Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… modeling gene regulation Co-Chairs: Trey Ideker Christina Leslie 12:30 - 2:00 p.m. Breakout Reports and Discussion … and Computational Capabilities Panel: Christina Leslie Marylyn Ritchie Jason Buenrostro Moderator: Aviv Regev …
File
… 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 …
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, …
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 … X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG. Identification of candidate genes involved in …
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 …
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 …
Staff
Dr. ​Eric D. Green is the Director of the National Human Genome Research Institute at the National Institutes of Health.
… 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, …
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 …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… ELSI About Us Without Us” Aubrey Mansfield, James Tabery, Leslie Francis, University of Utah Maya Sabatello, Columbia …