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News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… Specifically, Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects … with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… suggest that dogs and humans may have similar biological pathways that give rise to the range of differences in brain …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… Dr. Ostrander believes finding dog variants, genes and pathways will reflect strongly on human health. "The genes …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… a person with a genomic variant associated with a known metabolic disorder. Further testing found that the individual …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… on Genomics and Global Health, and chief of the NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… of Dr. Leslie Biesecker, chief of the Medical Genomics and Metabolic Genetics Branch, where she studied the genetic …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… a recent restructuring that includes the addition of a new Metabolic Medicine Branch . During 2022 and 2023, the IRP was …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… or Gaucher disease. Understanding the involved biological pathways will be important for future studies aiming to … group that aimed to understand genome function and gene pathways in development and disease. His group was the first …
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.
… TGAC co-organizer and chief of the Medical Genomics and Metabolic Genetics Branch at NIH's National Human Genome …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… to consolidate 10 branches down to 7 and established the Metabolic Medicine Branch . He also consolidated the …