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Research Funding
Genome Sequencing Program
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
Event
From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
News Release
NIH genome sequencing program targets the genomic bases of common, rare disease
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… $13.4 million, four years Principal Investigators: Daniel MacArthur, Ph.D. and Heidi Rehm, Ph.D. Yale …
Staff
Heidi J. Sofia, Ph.D.
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
News Release
Differences in our DNA have major influences on how our genomes function, but how?
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… methods to study genomic variation. Working with Daniel Bauer, Ph.D. (Boston Children’s Hospital), Guillaume …
Event
Jeffrey M. Trent Lectureship in Cancer Research Series
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… This year's lecture will be given by Carol Greider, Ph.D., Daniel Nathans Professor and Director, Department of …
Profile
A computer scientist’s quest to complete a critical genomics puzzle
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… and he didn’t look like the typical candidate,” says Daniel Kastner, M.D., Ph.D., former scientific director of …
News Release
NHGRI researchers to present talks, posters at ASHG annual meeting
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Disorder of Deglycosylation. (Metabolic Disorders) 2308F. Daniel Borger: Autopsy findings in Gaucher disease indicate …
Research Funding
Impact of Genomic Variation on Function (IGVF) Consortium
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.
… regulatory variants HG012003 Luca Pinello Daniel Bauer Guillaume Lettre Richard Sherwood Massachusetts … and democratize the access to the learning tools.   Daniel McGrail, Lerner Research Institute, Cleveland Clinic …
The Genomics Landscape
Dr. Dan Kastner Honored as Federal Employee of the Year
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.