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Staff
Dr. Francis Collins was 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 … book. He served as director of the National Human Genome Research Institute at the NIH from 1993-2008. Dr. … of affected sib pairs, and then moved on to perform genome-wide association studies (GWAS), and has subsequently …
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 …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… Dr. Erin Ramos is the Director of the Division of Genome Sciences at the National Human Genome Research … chaired the Data Access Committee (DAC) for the Genetic Association Information to provide access to some of the first genome-wide association studies in dbGaP, and currently serves on …
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 …
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
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… new participants at this time. For other COVID-19 related studies at the National Institutes of Health, visit: … trainees, and guest researchers may join in NIH studies if they wish to do so. You should not feel compelled … Policy for NIH Employees Participating in Medical Research Studies …
Talking Glossary
Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la investigación genética para asociar variaciones genéticas especÃficas con ciertas enfermedades.
… Estudio de asociación de genoma completo (GWAS) … Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la … Un estudio de asociación del genoma completo (GWAS) es un enfoque de investigación que se emplea para … Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… National Human Genome Research Institute (NHGRI) researchers have identified …
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). … advancing our understanding of the complexity of our own genome and, in turn, improve human health." This year, 416 …
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 …