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About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
For Health Professionals
ISCC-PEG working groups that are no longer active. Information is kept for historical purposes.
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.