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个人简介
My current interests are focused on bringing new genomics technologies to Hopkins investigators that enable our faculty to study the structure and function of the human genome more effectively and economically. I have helped establish DNA sequencing, synthesis, and genotyping activities both at the medical school, within the Genetic Resources Core Facility (grcf.jhmi.edu), and for the NIH through the Center for Inherited Disease Research (www.cidr.jhmi.edu). Currently, we are providing high throughput genotyping and next-generation sequencing as services. In addition, we offer DNA isolation, qPCR, Sanger sequencing, and cell culture and cryopreservation, among other services, through the GRCF.
I am also interested in the problem of gene annotation so that functional information can be captured and presented in a way that will help with the discovery of the underlying bases of common disease. As an editor for OMIM (omim.org) I attempt to find information about genes reported in the biomedical literature that may help explain disease phenotypes. I am also part of a committee attempting to establish a Clinical Genomics Center at JHM which will translate our research expertise in sequencing and genotyping into clinical practice. Lastly, my research interests include the study of isolated cleft lip and palate with Dr. Beaty in the Bloomberg School of Public Health and in the evolutionary genomics of vertebrates, especially endangered species.
I am also interested in the problem of gene annotation so that functional information can be captured and presented in a way that will help with the discovery of the underlying bases of common disease. As an editor for OMIM (omim.org) I attempt to find information about genes reported in the biomedical literature that may help explain disease phenotypes. I am also part of a committee attempting to establish a Clinical Genomics Center at JHM which will translate our research expertise in sequencing and genotyping into clinical practice. Lastly, my research interests include the study of isolated cleft lip and palate with Dr. Beaty in the Bloomberg School of Public Health and in the evolutionary genomics of vertebrates, especially endangered species.
研究兴趣
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biorxiv(2022)
bioRxiv (2022)
E. Humble,P. Dobrynin,H. Senn, J. Chuven,A. F. Scott,D. W. Mohr,O. Dudchenko,A. D. Omer,Z. Colaric,Lieberman E. Aiden, S. S. Al Dhaheri,D. Wildt,
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