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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Neurodegenerative Disorders P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 … of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School … research and the latest advances in medical genetics, genomics and personalized medicine.  The conference will …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… to help gather information from the national genetics and genomics community regarding the current and future state of … sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce. … NHGRI is conducting three …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Study shows genomic information can unknowingly influence medical decisions depending on race. … Sonja Soo: Can you … new polygenic risk scores will be used or received in medical clinics.  For this study, we wanted to predict how … will influence how a doctor might view a patient and make medical recommendations.  We know from previous research …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… … Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … The National Human Genome Research … M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the … at the Mayo Clinic in Rochester, Minnesota, and in medical genetics at Baylor College of Medicine in Houston. …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… for sickle cell, are among the most widely publicized medical advances in recent years. The results were published … people have differing levels of knowledge of biology and genomics. Interestingly, while some physicians were …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… provides a path towards collaborative, community-driven genomics research. … In August 2020 the Centers for Disease … issues of inclusion persist, Alaska Native people and the genomics community are engaging in more dialogue and … tribal leaders and scientists have discussed the future of genomics research among Alaska Native people in multiple …
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… Analysis" lecture series. Given the rapid advances in genomics and bioinformatics that have taken place in the past … and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of … Medicine is accredited by the ACCME to provide continuing medical education for physicians. Credit Designation …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… Genome Research Institute (NHGRI) will host a seminar, " Genomics, Imaging and AI - three technologies that are … as the bedrock of how we understand living systems: genomics, including nucleic acid-based molecular biology … Amphitheater … MD … 10 Center Dr, Bethesda, MD 20814 … Genomics, Imaging and AI … The National Human Genome Research …
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.
… … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … NHGRI clinical director and senior clinician in the NHGRI Medical Genetics Branch, wants to know if we can find a way … skin conditions more accurately than pediatricians or medical geneticists. These computing systems, called neural …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… Storrs; University of California, Davis; Howard Hughes Medical Institute, Chevy Chase, Maryland; and the National …