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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… 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. 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 Inglese is an adjunct investigator in NHGRI's Metabolic Medicine 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. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… methods and specialized genomics protocols to meet their research needs. Dr. James Thomas obtained his A.B. in biology … Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing identifies novel …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Announcements ( RFA-HG-20-048 and RFA-HG-20-049 )  Can a genetic counselor consultant fulfill the need to have a person with genetic counseling experience on the team? No, a person or … experience need(s) to be an integral part of the research team including being involved in research design, …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling …
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 …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory … Rotation Sites: NIH Clinical Center National Human Genome Research Institute (NHGRI) National Institute of Allergy and …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency … physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical …