Search Results
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… that is unique to tumors." Dr. Elnitski is head of the Genomic Functional Analysis Section and senior investigator … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about … … Related Content … NIH researchers identify striking genomic signature shared by five types of cancer … National …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group (GMWG) is compiling 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 …
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 …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… of modern humans, Africa is home to the greatest genomic variation in the world. An important limitation to … 50 ethnolinguistic groups. In addition to using these data to describe the genomic diversity within Africa with unprecedented breadth, …
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 … are also invited to give feedback about the platform. By sharing data and tools now – while participant recruitment …
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 …
Event
NIH staff from NHGRI, ODSS, NIMHD and AoU will hold a pre-application informational webinar for prospective applicants to the funding opportunity (RFA-HG-22-002) on July 6, 2022, at 12 p.m. ET.
… Hub for Enhancing Diversity in Computational Genomics and Data Science , or “the Hub,” is an NIH initiative that leverages NHGRI’s Genomic Data Science Analysis, Visualization and Informatics … the Hub in 2021 to enhance diversity in cloud-based genomic data science education. This initiative aims to …
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 …