Search Results
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Gunter Christopher Donohue Dan Gilchrist Daphne Bell David Adams Ebony Madden Elaine Ostrander Ellen Sidransky Eric …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… . Hum Mol Genet . 2018 Feb 15;27(4):691-705. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen … leukodystrophy . Neurol Genet . 2019 Jan 24;5(1):e305. Adams D, Toro C , Loscalzo J. Novel approaches to diseases of … of Internal Medicine 21e. McGraw Hill; 2022. Gahl WA, Adams DR Markello TC, Toro C , Tifft CJ. Genetic approaches …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… In 2013, her research group discovered a methylation mark (or signature) around ZNF154 in 15 tumor types in 13 … disease. Dr. Elnitski's group identified the methylation mark using DNA taken from solid tumors. "No one in my group … and subtypes consistently produced the same methylation mark around ZNF154 . "Finding the methylation signature was …
Research Funding
Instructions for how to use NIH RePORTER to generate a list of active NHGRI grants.
… same line and to the right, click Select. … Place a check mark next to Active Projects . Click Select . … Under the … All NIH Institutes and Centers ") so that there is a check mark in that box. (Check marks will appear next to All …
Event
On October 20, 2022, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", a program that explores the experiences of renowned African American biomedical researchers and physicians.
… Institutes of Health that includes Fatimah Jackson, April Adams, Shawneequa Callier and Neil Hanchard. The researchers …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
About NHGRI
The Genomic Data Science Working Group facilitates engagement of the National Advisory Council for Human Genome Research on genomics and data science issues.
… Ph.D.  (co-chair), Oregon Health & Sciences University Mark Craven, Ph.D. , University of Wisconsin-Madison Barbara … M.D. Columbia University Trey Ideker, Ph.D. , UC San Diego Mark Johnston, Ph.D. , University of Colorado School of …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… function, and phenotype with machine learning HG012022 Mark Craven University of Wisconsin Linking variants to … Coordinating Center Awards J. Michael Cherry Mark Gerstein Benjamin Hitz Stanford University Yale …
FAQ
On July 20, 2023, the National Human Genome Research Institute (NHGRI) hosted a pre-application webinar for the Human Genome Reference Program (HGRP) Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO): RFA-HG-23-026. We collected the questions and answers from the webinar to help applicants.
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Massachusetts Principal Investigators: Eric Lander, Ph.D., Mark Daly, Ph.D., Stacey Gabriel, Ph.D. and Sekar Kathiresan, … M.D., Ph.D.; Murat Gunel, M.D.; Shrikant Mane, Ph.D.; Mark Gerstein, Ph.D.  University of Washington , Seattle …