Search Results
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 … local clinicians in these circumstances to obtain clinical data and samples. Is my doctor going to be my primary doctor …
Staff
Dr. Mike Pazin is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
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… grants in functional genomics. He has worked on the NHGRI Data Access Committee, Common Fund Epigenomics , modENCODE , … Mike Pazin, Encyclopedia of DNA Elements (ENCODE) Project, data access, functional genomics … Mike Pazin, Encyclopedia of DNA Elements (ENCODE) Project, data access, functional genomics … Dr. Mike Pazin is a …
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 …
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 … genome sequence was publicly released. Since then, genomic data science has grown exponentially, paving the way for …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Strategic Planning events include: one of two data science web-based workshops  held on Oct. 31, 2019; a … Strategic Planning events include: the second of two data science, web-based workshops  to be held on Nov. 19, … of Gabriella Miller Kids First Pediatric Research Program data Administrative supplements to NIH-funded T32 and TL1 …
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 …
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 …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… 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, … Dr. Koren pioneered the use of newer noisy long-read data (such as generated by Pacific Biosciences (PacBio) and …