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Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… J.W., Cáceres, M., Lowman, J.J., Morehouse, C.B., Short, M.E., Baldwin, E.L., Maney,D.L., Martin, C.L. The chromosomal polymorphism … Elnitski, L., Idol, J.R., Prasad, A.B., Lee-Lin, S.-Q., Benjamin, B., Cariaga, K., Brinkley, C.P., Brooks, S.Y., …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… part of the National Institutes of Health.    … Sarah E. Graham et al. The power of genetic diversity in …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… for common, complex diseases of public health importance (e.g., coronary heart disease, Alzheimer’s disease, and … Limdi, Ph.D., at University of Alabama, Birmingham Eimear E. Kenny, Ph.D., at Icahn School of Medicine at Mount Sinai, …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… be partnering with NIH on this important work," said John E. Niederhuber, M.D., executive vice president and CEO of …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing ​
… Cell Biol, 14(1), 49-55. doi:10.1038/nrm3486 [4] Lander, E. S. (2016). The Heroes of CRISPR. Cell, 164(1-2), 18-28. …
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.
… are performing. Thomas Montine, Stanford University Sharon E. Plon, Baylor College of Medicine This group develops … if the risk were known Pediatric Actionability Jessica E. Hunter Bradford Powell Identify those human genes that, … K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey E, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… His research also includes genetics of orofacial clefts (i.e. cleft lip/palate). In collaborative studies, his research … Agyenim-Boateng K, Eghan BA Jr, Oli J, Okafor G, Ofoegbu E, Osotimehin B, Abbiyesuku F, Johnson T, Rufus T, Fasanmade … 18(11):1085-1087. 2016. [ PubMed ] Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC. Towards …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute. ​
… Psychiatry.  23:683-690. 2018. [ PubMed ] Sudre G, Szekely E, Sharp W, Kasparek S & Shaw P. Multimodal mapping of the … of Science . 114(44):11787-11792. 2017. [ PubMed ] Szekely E, Sudre GP, Sharp W, Leibenluft E, & Shaw P. Defining the Neural Substrate of the Adult …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… regulation related to common, complex diseases.   Audrey E. Hendricks, Ph.D. University of Colorado, Denver Develop …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… activities directly related to sequence production (e.g., laboratory information management systems and initial … covered by significant subsidies to a sequencing center (e.g., a grantee institution providing funds for purchasing … Data analysis downstream of initial data processing (e.g., sequence assembly, sequence alignments, identifying …