Search Results
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. …
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, … work on the human skin microbiome and the use of genomic tools to advance the tracking and control of …
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 …
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 …
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 …
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 …
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 …
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 … trial of investigational vaccine for COVID-19 begins Genomic study points to natural origin of COVID-19 Gene …