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- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
A study for patients with unexpected genetic results
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 …
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.
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… 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.
… we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach …
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 …
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, …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. … cancers. This involves using both linkage and genome-wide association studies of families and case-control studies. In …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… and terriers are plucky supermodels. National Human Genome Research Institute (NHGRI) researchers reached this … (PNAS). … Understanding Athletic Performance In other studies, largely in humans, researchers have identified about … researchers relied on a new global database of the whole-genome sequences of 722 dogs across 44 domestic breeds, along …