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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.
… and Health Equity (TiDHE) Office at the National Human Genome Research Institute (NHGRI). She previously served as … and the NHGRI scientific lead for the online NHGRI Genome-wide Association Study catalog. In her time at NHGRI, she has …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acid levels, and for genetic tests and basic research studies. In some patients, a blood test to measure growth … director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association A volunteer non-profit organization whose mission …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… prevention, diagnosis, and treatment of disease. … Human Genome Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, …
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.
… The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National … has performed over 6,000 studies  looking at the association of specific genomic variants and cardiovascular … researchers accumulated data from 201 previous genome-wide association studies, including about 1.65 million …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). … … genome, as well as lay the groundwork for translational studies focused on specific human diseases. Dr. Baxevanis …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the … of affected sib pairs, and then moved on to perform genome-wide association studies (GWAS), and has subsequently become an …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… Ph.D. … Dr. Koren is an associate investigator in the Genome Informatics Section, Computational and Statistical Genomics Branch at the National Human Genome Research Institute. After completing his M.S., Dr. … of pieces. It is sometimes considered routine due to the wide availability of short-read sequencing. However, no …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics … Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of … particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … Genomics is a field of biology focused on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all …