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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
Staff
Dr. Sandhya Xirasagar is a program director in NHGRI’s Office of Genomic Data Science.
… is a program director in NHGRI’s Office of Genomic Data Science. Prior to joining NHGRI in 2022, Sandhya was at … promoting, supporting, and coordinating genomic data science activities across NHGRI. She oversees an … grant portfolio focused on model organism databases, data science, and training to foster genomics and data …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… tested Verkko with human and non-human genome sequencing data. The software quickly and precisely assembled the …
Staff
Dr. Jean Gao is a Program Director in NHGRI's Office of Genomic Data Science.
… in 2024 as a Program Director in the Office of Genomic Data Science. Prior to joining NHGRI, she was a Program … on developing efficient algorithms to solve large scale data analytics problems in basic medicine and in clinical … and fundamental contributions to machine learning, data mining, artificial intelligence, statistical pattern …
DEIA
The annual Bettie J. Graham Leadership Award for Enhancing Diversity, Equity, Inclusion, and Accessibility in the Genomics Workforce was developed by the National Human Genome Research Institute (NHGRI) to honor investigators or individuals who have had a significant influence on enhancing DEIA in the genomics workforce.
News Release
H3Africa Consortium Array Will Bring Leading-Edge Genomics Tool to Address African Genomic Diversity
Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative.
… Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative … … Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative. … … Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative. …
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… language versions); and bioinformatics support (e.g., data dictionaries, REDCap compatible modules) to facilitate implementation of the measures and data analysis downstream. Studies that use PhenX (consensus … The use of PhenX measures facilitates collaboration and data sharing, thus increasing the impact of individual …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… biomedical research, to science education and outreach, to data science policy and strategy. But before you get to those … issue of The Genomics Landscape , the NHGRI Genomic Data Science Working Group of the National Advisory Council … disparities: Why include people in research is they lack access to decent health care?” Funding Opportunities NIH …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most promising … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional … psychosocial implications of returning genomic variation data, with all of the caveats regarding statistical …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… and decrease cost while maintaining or improving data quality and the integration of process steps is key to … may be grounds for discontinuation of funding. Provide access to the technology developed under this grant support … and implement plan to disseminate any quantity of sequence data if collected under this grant support. Genome …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … of looking at the person after looking at the genomic data "iterative phenotyping." Researchers sifted through more … the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic …