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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- 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
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… The National Institutes of Health (NIH) Data Access Committees (DACs) play an important role in … datasets (that contain potentially identifiable data and require approval prior to access) are used in a … NIH DACs while enabling efficient review and approval of data access requests (DARs).  The D ata U se O versight S …
Research Funding
A scalable and interoperable resource that leverages cloud-based infrastructure for genomic data access, sharing and computing.​
… use of human genomics and other controlled-access data in compliance with the informed consent of a study’s … A list of available datasets can be found in the DUOS Data Library. … The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) is …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… clinicians in these circumstances to obtain as much useful data as possible. Will I be able to visit a local doctor to … to travel to the NIH clinical center annually. The data for the study is most consistent and thus comparable … variations, a targeted somatic mutation panel, cytogenetic analysis, FACS analysis, histological/pathological …
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 …
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 …
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 … effort has been driven by the H3Africa Genome Analysis Working Group, of which Center for Research on … … Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative. …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion - Genetic … Autonomy … On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a … … On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a …
Educational Resources
A centimorgan (abbreviated cM) is a unit used to measure genetic linkage.
… is a unit used to measure genetic linkage. … Linkage Analysis, Genetics, Chromosome, Base Pairs, Thomas Hunt …
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 …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… he developed several tools for metagenome assembly and analysis. In 2010, Dr. Koren joined the National Biodefense … a complete sequence from relatively short-range data generated by sequencing instruments, like a giant jigsaw … two images on top of each other, and leads to both data loss and errors in analysis. To mitigate these issues, …