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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
… aging studies, further expands the utility of the dog as a genetic system for studies that inform human health and …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… approach to studying the phenotypic consequence of human genetic variation. Image Credit: Darryl Leja, NHGRI. "We're …
News Release
NHGRI has selected Sara Chandros Hull, Ph.D., and Shawn Burgess, Ph.D., as deputy scientific directors of NHGRI’s Intramural Research Program.
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… clearly plays a role in obesity, but the precise genetic mechanisms aren't understood, and the genetic risk factors are complex. Dr. Persky and her …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… came from a 2015 study in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an … ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many of the lower hanging …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… and premature death in children. Progeria is caused by a genetic mutation in the LMNA (“lamin A”) gene, which helps …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… as yeast,” said Meru Sadhu, Ph.D., an investigator in the Genetic Disease Research Branch at NHGRI and senior author of …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… inequities in genomic analyses. For example, predicting a genetic disease might not work as well for someone whose … a co-author of the main study. “For example, predicting a genetic disease might not work as well for someone whose …
Profile
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.
… in diagnosing patients, especially those with unresolved genetic conditions.” Until recently, that goal was hard to …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… feel privileged to have had the opportunity to study the genetic blueprint found within the genomes of our earliest …