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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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 … affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest … The researchers used whole genome sequencing and genome-wide association studies to identify genomic variants associated …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… T2D. Over 90% of these fall in non-coding regions of the genome, making it difficult to determine what gene has its … not attainable from the FUSION subjects. The aim of these studies is to compile the knowledge gained from studying … colleagues are employing this system in CRISPRi -genome wide gene inhibition experiments to identify critical genes …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… and retroviral integration sites to the annotation of the genome of the ctenophore Mnemiopsis leidyi . Dr. Wolfsberg … and safety of retroviruses used as vectors in gene therapy studies. More recently, her group has expanded the pipeline … zebrafish gene knockout resource for the genome-wide study of gene function. Genome Res , 23(4):727-35. 2013. …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… , is the first to use both dense genotyping and whole-genome sequence data to explore the genomic-variation … have carried out only a modest number of genome-wide association studies, or GWAS, using continental African …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… population. Classification of Gaucher Disease There is a wide variation of disease presentation and severity among … presentation of Gaucher disease worldwide. Again, there is wide span of symptoms, some patients are very similar to … of research of our team. … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
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 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… Jr. is acting deputy director of the National Human Genome Research Institute (NHGRI) and a member of the senior … State University. Mr. Bonham was a fellow in the American Association of Medical Colleges Health Services Research … not had access to genomics. The Bonham group also studies sickle cell disease, a condition impacted by emerging …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… 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 … Genetic Disease Research Branch at NIH's National Human Genome Research Institute. "The paper also provides a …