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. … What are machine …
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 …
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 … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various …
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 … Research … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and … disparities. … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and …
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 …
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
How to send data, confirming preliminary results, and returning results
… team places the order. … 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 April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… 1 to 2 p.m. highlighting publicly available genetic and genomic resources for celebrating National DNA Day. Fourth, … together illustrative stories of remarkable genetic and genomic advances, the film highlights the major breakthroughs … Research Centers (RFA-HG-20-007) and Mendelian Genomics Data Coordinating Center (RFA-HG-20-008) Ruth L. Kirschstein …
The Genomics Landscape
In the November 5, 2020 edition of The Genomics Landscape, Dr. Eric Green focuses on the 2020 Strategic Vision.
… related to things like diversity, equity, social justice, data sharing, and team science. The second, “sustaining and … (consisting of infrastructure, resources, training, genomic literacy, data science, and exciting areas of … related to DNA synthesis and editing, characterizing genomic variants, understanding genomic mosaicism, and …