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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
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide … for NHGRI activities, programs and policies in genomic data science. Ms. Di Francesco joined NHGRI in 2014 … Science Program . She coordinated a diverse portfolio of genomic data science and computational biology grants and …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… Lead Extramural Training Program Director in the Training, Diversity, and Health Equity (TiDHE) Office at the National … epidemiologist and program director in NHGRI's Division of Genomic Medicine. She received her M.P.H. and Ph.D. degrees … formed to expand understanding of ancestral differences in genomic disease associations in large, diverse, …
Staff
Christina R. Daulton serves as the Partnerships and Engagement Officer at the National Human Genome Research Institute (NHGRI) in the Office of the Deputy Director and the Training, Diversity, and Health Equity Office.
… in the Office of the Deputy Director and the Training, Diversity, and Health Equity Office. In her role, Ms. … in the Office of the Deputy Director and the Training, Diversity, and Health Equity Office. … Christina Daulton, genomic literacy, genomics education, genomics resources for …
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.
… of genome sequences captures significantly more human diversity. … The new pangenome reference is a collection … genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… the pathophysiology of childhood diseases. Traditionally, genomic studies in children have focused on rare Mendelian … underrepresented groups harboring an abundance of genomic diversity and unique clinical presentations. Our approach is … universal sickle cell-based knowledge representation. Database (Oxford). 2019 Jan 1;2019:baz118; PMID: 31769834 L …
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.
… Genomics Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… Native Health Board (ANHB) — co-sponsored a workshop on genomic research with the National Human Genome Research … was to cultivate trust and build relationships between the genomic research community and Alaska Native people, a … As highlighted in the 2020 strategic vision by NHGRI , diversity and inclusion in genomics research is an ongoing …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… Ms. Colley was also a program director in the Division of Genomic Medicine, National Human Genome Research Institute … of SNP-trait associations. Nucleic Acids Research , 42(Database issue):D1001-6. 2013. [ PubMed ] Hamilton CM, … Development Program Officer in the Office of Training, Diversity, and Health Equity at the National Human Genome …