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Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… V., Geschwind M.D., Gavrilov D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies …
Staff
Dr. Ebony Madden is the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research Institute. ​
… ] RR Fabsitz, A McGuire, RR Sharp, M Pandey, LM Beskow, LG Biesecker, E Bookman, W Burke, EG Burchard, G Church, EW …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG. Identification of candidate genes involved in …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… Circuitry from ENCODE Data U01 HG009380 Christina Leslie Memorial Sloan Kettering Cancer Center Encoding …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… new intramural precision health research program. Dr. Les Biesecker, Chief of the NHGRI Medical Genomics and Metabolic …
File
… Sinmao NIH Common Fund: Jim Anderson , Betsy Wilder, Leslie Derr NCI: Ian Fore, Sean Davis, Warren Kibbe, Tony …
File
… Director. • ASHG members elected a new president -elect (Leslie Bies ecker), three directors (Katrina Goddard, Donna …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… (MGC). Genome Res , 19:2324-2333. 2009. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2021.
… Jones - Complicated Legacies: The Human Genome at 20 Biesecker - A Review and Definition of 'Usual Care' in …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, and Venditti CP. Exome sequencing identifies …