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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. …
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
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 …
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 …
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 …
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, …
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 … policies, standard procedures (including simplified analysis and interpretive tools), and improved to integrating …
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 … 2 and 40 exabytes of data within the next decade. The analysis, storage, and sharing of such vast amounts of …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… of hidden patterns in large and complex genomics data sets from basic and clinical research projects.  … provide machines with separate training and test data sets. The training data has defined categories (e.g., … examples include: Examining people’s faces with facial analysis AI programs to accurately identify genetic disorders …
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 …