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Staff
Dr. Douglas Stewart is an adjunct investigator in NHGRI's Genetic Disease Research Branch.
… Dr. Stewart studies phenotypes and genetic determinants of familial tumor-predisposition … disorder. Dr. Stewart is leading a project which uses new high-throughput sequencing technologies to identify, catalog and …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… and international chemical biology consortia. … High throughput technologies enable assays of biochemical, … the design and development of HTS assays from the genetic basis of a disease is one way to initiate the …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine. …
Staff
Dr. James Thomas is the deputy director for the NIH Intramural Sequencing Center (NISC).
… joined the NHGRI as a postdoctoral fellow and began his research in the emerging field of comparative genomics. Dr. … … James Thomas, NIH Intramural Sequencing Center (NISC), high-throughput sequencing, comparative genomics, data production …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… heritability from common diseases associated with common genetic variants to rare diseases associated with rare … in biology and medicine by applying tools ranging from high-throughput biologic methods, large scale informatics methods, …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… Achieving our goals requires innovative and, at times, high-risk strategies that utilize a wide range of genomic, genetic, computational, and high-throughput methodologies. Our ability to rapidly pursue …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… sequencing of the human genome and identification of genetic markers for human diseases. While model organisms … … Technological advances in DNA sequencing have made high-throughput sequencing methods significantly faster and …
File
… +associated#genetic#variation;#and# address #basic#biological#questions … scientific#community# ¥ Users#require#high+quality#data,# collected#in#a#systematic#manner# ¥ … activity in transgenic mouse enhancer assays and high throughput reporter assays. Such efforts are critical to …
Research at NHGRI
NHGRI branch focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on … University in Baltimore, Maryland. The center provides high-throughput genotyping to scientists at NIH and at research
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of …