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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
A study for patients with unexpected genetic results
… A new study is recruiting people who received unexpected genetic … … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” from genetic … a secondary result, you may be eligible to join this study. The purpose of this study is to learn about how people …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
… Jr. is acting deputy director of the National Human Genome Research Institute and a member of the senior … State University. Mr. Bonham was a fellow in the American Association of Medical Colleges Health Services Research … Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS), conducted at two U.S. sites and one …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… Jeannine Mjoseth … In the first study of its kind, an international team of genomics … researchers has identified new regions of the human genome that are associated with skin color variation in some … Tanzania and Botswana has shed light on regions of the genome not previously associated with skin color. Hands of …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … Room ) How much more sequencing, if any, is needed to study Mendelian and common disease, and what should NHGRI do … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… and Skin Diseases (NIAMS) and at the National Human Genome Research Institute (NHGRI) since 1997. Dr. Sood was … bioinformatics tools to her research ranging from genome-wide association studies to positional cloning to functional …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… Whom should I refer to the NIH study? We are interested in seeing patients with the … and Researchers … FAQs for Autoinflammatory Diseases Study providers and researchers. … FAQs for Autoinflammatory Diseases Study providers and researchers. … Clinical Research …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… September 2013. The GDS policy can be traced to the Human Genome Project, completed in 2003, which required rapid and … The GDS policy is an extension of and replaces the Genome-Wide Association Studies (GWAS) data sharing policy. Since 2007, …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… Program, Frank KM, Palmore TN and Segre JA. Whole genome sequencing overrules a suspected case of … Program, Palmore TN, Frank KM and Segre JA. Complete genome sequence of a Klebsiella pneumoniae carrying bla NDM-1 … DK, Frank KM, Segre JA and Palmore TN. Detection and whole genome sequencing of carbapenemase-producing Aeromonas …
Staff
Stacie Anderson is an associate director in the Office of Scientific Core Facilities and is also the director of the Flow Cytometry Core.
… The Flow Cytometry Core of the National Human Genome Research Institute was established in January 1996. … megakaryocyte and erythroid differentiation pathways. Genome Biol, 17:83. 2016. [ PubMed ] O'Brien KA, Farrar JE, …