Search Results
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.  … learning analyses could benefit disease research and genomic tools like CRISPR.  NHGRI is identifying and shaping its unique role in the convergence of genomic and machine learning research. …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… to develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines … biorepositories with electronic medical record systems for genomic discovery and genomic medicine implementation … rapidly advances best practices for the implementation of genomic sequence data into clinical care. …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… HGP researchers were committed to maintaining high-quality data standards and providing rapid data release. Recognizing the significance of this 30 th … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… After the SGFS has received your data in the form of a .vcf file, we will commence annotation. … your acceptance to the SGFS, you will also receive an SGFS Data Submission Form with the top part completed. Prior to submitting a batch of data, please complete and initial the bottom part of this …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are a … patients and doctors and for patient health overall. As genomic information about patients becomes more and more … of Us Research Program has started beta testing their new data platform . The All of Us  Researcher Workbench allows …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… a workshop to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research, and … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… algorithms for the efficient analysis of large-scale genomic datasets with a focus on genome assembly. Genome … a complete sequence from relatively short-range data generated by sequencing instruments, like a giant jigsaw … led the development of an approach which uses parental genomic information to identify sequences belonging to either …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… samples are sent to SGFS. This includes ensuring that all data sent to the SGFS come from research participants who … What type of data does the SGFS accept? … Responsibilities as a PI, consent, type of data accepted, and how to apply … Responsibilities as a PI, consent, type of data accepted, and how to apply …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Gahl. "There's a central Institutional Review Board and sharing of information," said Dr. Gahl. "People talk and work … Dr. Gahl. That leaves the N=1 person stranded. Sharing of data is so critical - to find the second case. " But, Dr. …