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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, … populations." A young boy undergoes  facial recognition software analysis for a possible  diagnosis of DiGeorge … will be able to use the atlas and the facial recognition software for early diagnoses," said Maximilian Muenke, M.D. , …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… GS-IT is intended to democratize access to useful analysis software for these researchers. The GS-IT strategy is to … readily adopted by independent researchers. This includes software dedicated to sequence quality, alignment, assembly, … provides "researcher friendly" sequence analysis tools and software to a broad community of independent scientists who …
Staff
Sangeetha Raghavan is a Senior Licensing and Patenting Manager in NHGRI's Technology Transfer Office.
… medical devices, plant varieties, small molecules and software. Her experience includes assessing technologies for … medical devices, plant varieties, small molecules, software … Sangeetha Raghavan is a Senior Licensing and …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and … of 8 years; almost half were female. Using facial analysis software and clinical criteria, the researchers compared 161 … genetic disease. Image Credit: Darryl Leja, NHGRI. The software analyzed 126 facial features, using a set of …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Human Genome Research Institute have developed a number of software and analysis tools to help researchers around the … Genometric Analysis Simulation Program (G.A.S.P.) A software tool that can generate samples of family data based … for genome-wide genetic association studies. ROMPrev A software suite for quantitative trait and locus-specific …
File
… Data Science Timeline 6/12 • Findings: • Sharing data & software through catalogs • Support methods and applications … Index – awarded 10/14 • R01, R41, R42, R43, R44, U01 software and analysis methods grants – awarded 10/14 • T32, … Index – awarded 10/14 • R01, R41, R42, R43, R44, U01 software and analysis methods grants – awarded 10/14 • T32, …
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… ● Development and dissemination of algorithms and software for analysis of major regulatory genomic data types, … in addition to the indiv idual datasets, technologies, software tools, and publications, the main “product” of … from a single donor as well as supports the description of software used for a pipeline, parameters used in running that …
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… Management, Analytics, and Visualization ToolsAlgorithms, software, models, and tools necessary to extract knowledge … management for tool development•Leverage commercial tools, software, workflows, and expertise•Promote development of open source, openly shared and reusable tools, software, and workflowsStrategic Objective 3-2: Broaden Use …
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… space Find, Deposit, Manage, Share, and Reuse data, software, metadata and workflows  Digital object compliance … Platform: Cloud Services: APIs, Containers, Indexing, Software: Services & Tools scientific analysis …
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… of data – High quality – Uniformly processed • Sharing software • Data interoperability • Informed consent for … data: ~340 Human Disease ~500 Basic Biology ~170 Methods/Software Development Cancer 38% Allergy, Autoimmunity 13% …