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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.
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.
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
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 …
Research at NHGRI
CRGGH Research
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… the corrected Tracy-Widom test  (ZIP) authored by Daniel Shriner, Ph.D. (CRGGH) for the  R environment  is …
Archive
NHGRI Scientific Director Daniel Kastner is inducted into the National Academy of Sciences
… NHGRI Scientific Director Daniel Kastner is inducted into the National Academy of Sciences … …
Staff
Shawn Burgess, Ph.D.
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… SM, Moir SL, Gadina M, Sood R, Hershfield M, Boehm* M, Kastner, DL, Aksentijevich I. Early-Onset Stroke and …
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 …