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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
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… Characterizing the entire repertoire of human functional genomic elements in islets, muscle, and adipose should … Drazen, Jeffrey M. eds. Forward by Elias Zerhouni, M.D. Genomic Medicine: Articles from the New England Journal of …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Neurogenetics Section focuses on the causes of phenotypic diversity encountered in a single gene disorder, and applies … This well-characterized disorder has broad clinical diversity, ranging from death in utero to asymptomatic … and α-synuclein is probed by biochemical, cell imaging, genomic sequencing and biophysical analyses, as well as …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… the director of the Library Core, he focused on employing genomic and cDNA libraries for genome research in genetic … essential in providing resources and services related to genomic research for NHGRI investigators. As head of the … FA. … The Cancer Genomics Unit (CGU) focuses on adopting genomic technologies for identification of disease genes and …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… Piloting large-scale genome sequencing for research in genomic medicine. Genome Res . 19(9):1665-1674. 2009. [ …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human inflammatory diseases … N, Romberg N, Komarow H, Aksentijevich I et al. Genomic Deletions in PLCG2 Define a Syndrome of Cold …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… and neurogenetic conditions. His team uses next-generation genomic tools to identify new genetic disorders, as well as … L. Bliss, B.S. Tseng, T.L. Winder, C.G. Bönnemann. Large genomic deletions: A novel cause of Ullrich congenital …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… a cell-cycle checkpoint that prevents cells with genomic damage from entering mitosis and reproducing. While …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… and genome sequencing. Approaches include developing genomic variant analysis pipelines for prioritizing potential …