Search Results
FAQ
Frequently asked questions from the November 2, 2022 webinar that provided an overview of the Funding Opportunity Announcement (FOA) for the AnVIL Clinical Resource (ACR)Â RFA-HG-22-021.
… of the ACR to provide functionality to return results to clinical research subjects?  Yes, the purpose of the ACR is to provide genomic-based clinical resources within the AnVIL platform to support clinical genomic research. … team?  Not necessarily. You can submit your proposal and work with AnVIL team to make sure your resources can be …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary findings explained, eligible protocols, and services offered … Responsibilities as a PI, consent, type of data accepted, and how to apply …  How to send data, confirming preliminary results, and returning results … Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of … "CPS1 deficiency". A list of broad categories of IEM and some examples are listed below. IEM Examples Urea cycle … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of … of a trait can help us understand its evolution and underlying biology. For traits that are related to a …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… at Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s … Director, he led a team of over 400 molecular geneticists, genetic counselors, and laboratory and research staff. … genetic conditions. Types of data to be analyzed include clinical/phenotypic information such as images, data from …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… This gathering was nothing short of intense, stimulating, and exhilarating, with numerous compelling ideas emerging … Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease" was held on January 22-24. View the recording …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, GINA, Federal …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… All times Eastern. 12:00 - 12:10 p.m. - Welcome and Introductions Co-Chairs: Ken L. Wiley Jr., Ph.D. and Marc … D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: … Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making …