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Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… prenatal therapies. To determine the extent that alternate transcription plays a role in phenotype variation, we are …
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… 2002. [ PubMed ] Wu X., Li Y., Crise B., Burgess S. Transcription start regions in the human genome are favored …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… of variants on gene expression, chromatin organization and transcription factor binding as cells undergo …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… been previously implicated in CCEC. TAF1 encodes part of a transcription factor complex, which regulates the expression …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… P, Stitzel ML, Collins FS, Kitzman JO, Parker SCJ.  A Transcription Start Site Map in Human Pancreatic Islets … P, Freedman M, Siciliano MJ, Collins FS. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… and her team will analyze the roles that HIF1α and other transcription factors play in turning genes on and off in …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.