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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… of the National Institutes of Health. He uses genetic and genomic technologies to study the etiology of inherited … program focuses on understanding the relationship of genomic variation to health and disease. The laboratory is … ClinSeq ®, uses massively parallel sequencing and other genomic interrogation methods as a tool for clinical …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Dr. Shaw's research program examined the interplay of genomic and environmental factors in shaping the … social and behavioral sciences, 2) identifying the genomic factors that contribute to the disorder, and 3) … development and social behavior in ADHD as the basis for genomic discovery and understanding. Many of the brain …
Staff
Zach Utz, M.A., is the archivist and public historian for the History of Genomics Program, part of the Office of Communications, NHGRI.
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… TN, Segre JA. Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing … analyses of multi-species sequences from targeted genomic regions . Nature , 424:788-793. 2003. Thomas, J.W., …
Staff
Dr. Elisabeth F. Heuston is a molecular biology and bioinformatics Staff Scientist with the Center for Research on Genomics and Global Health (CRGGH).
… assays and in vivo rodent models to identify common genomic mechanisms across multiple subtypes of acute myeloid … In 2022, Dr. Heuston joined CRGGH to investigate the genomic architecture of complex traits among populations of … she aims to create a catalogue of functionally-defined genomic elements that influence the pathophysiology of …
Staff
Jennifer Strasburger was the lead Genomic Program Administrator (GPA) for NHGRI as well as the co-chair for the NHGRI Data Access Committee (DAC).
… and technology development. She was also NHGRI’s lead genomic program administrator. In that role, she assisted … extramural and intramural investigators in depositing genomic data into public repositories such as dbGaP and AnVIL … Strasburger, M.S. … Jennifer Strasburger was the lead Genomic Program Administrator (GPA) for NHGRI as well as the …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… Dr. Elnitski continues to train the next generation of genomic scientists while advancing genome biology, precision … discovery highlights a fundamental process in maintaining genomic stability and preventing disease. Additional findings … screening and early intervention. By integrating genomic, epigenetic, and transcriptomic data, this research …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… (AMP-T2D) consortium. … The application of genetic, genomic and functional biology approaches are valuable and … of a humanized transgenic mouse model by inserting a human genomic DNA segment containing the LMNA gene engineered with … Research. … Hutchinson-Gilford Progeria Syndrome, genetic, genomic, functional biology, LMNA gene, Type 2 Diabetes, …
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.