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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
… at the annual AACR Workshop Molecular Biology in Clinical Oncology . In addition, she has authored a chapter … Protocols in Bioinformatics and Current Protocols in Human Genetics . Dr. Wolfsberg has also served as a member of the … [ PubMed ] Solomon BD, Nguyen A-D, Bear KA, Wolfsberg TG. Clinical Genomic Database. Proc Natl Acad Sci U S A, …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… of biomedical research in the world, from basic to clinical research. Dr. Collins is a physician-geneticist … This research complemented other data in support of a clinical trial administering FTIs to HGPS patients, which has … Francis S., Ginsberg, David. Principles of Medical Genetics, 2nd ed. Baltimore: Lippincott, Williams & Wilkins, …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… thesis was on the positional cloning, physical mapping and genetics of hemochromatosis. He completed his first … at the NIH. In 1996, Dr. Elkahloun joined Research Genetics, Inc., where he started a microarray department to … H, Adeyemo A, Rotimi CN. Pharmacogenomics, ancestry and clinical decision making for global populations. …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
Staff
Dr. Dave Kaufman is a program director Division of Genomics and Society at the National Human Genome Research Institute.
… Dr. Kaufman serves as the primary ELSI advisor to the Clinical Sequencing Evidence-Generating Research (CSER) … integration of genomic information and technologies into clinical care. He also focuses on big data and stakeholder …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… of Human Disease Genes: Implications for Modeling Disease Genetics in Animals. BMC Evol. Biol. 14: 212. 2014. [ PubMed … Assessing Variants in microRNA Targets using Clinical Genomic Data Sets. Nucleic Acids Res. (doi: … A.D. A User's Guide to the Human Genome II. Nature Genetics: Supplement 35: 1-79. 2003. [ Full Text ] Baxevanis, …
Staff
Dr. Sandhya Xirasagar is a program director in NHGRI’s Office of Genomic Data Science.
… of Allergy and Infectious Diseases, where she led their Clinical Genomics and Laboratory Informatics Initiatives. She …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
… August 2023. His primary role is to conduct studies in pre-clinical models to characterize the function of novel genes …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… developed computational tools for detecting pathogens in clinical samples as part of the Center for Infection and …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… W. Smith, who joined the NHGRI in 2012, brought his genetics and genomics research and management expertise to … Hopkins University in the area of molecular population genetics. His post-doctoral work focused on molecular … approaches, seminal discoveries in kidney disease genetics (Apo1) and HIV-1/AIDS host genetics (CCR5 and CCR2), …