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News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), which helps administer the … For the last decade, scientists have used genome-wide association studies (GWAS) to study the role that genomic …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… of the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI). She joined NHGRI in 2006 … 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 Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… and provides us with the most useful information for our study. Most hospitals do not have the same MRI capabilities. … or non-reportable NIPT result, you can still join the study. You will not have to travel to the NIH to participate. … place in or near your hometown to follow up on your study results. In most cases, the next step is to have a …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in … are investigating the disease as a whole and studying the wide range of complications that sickle cell patients … in helping researchers understand how your environment and genome may impact your sickle cell disease? Are you …
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.
… genéticas especÃficas con ciertas enfermedades. … A genome-wide association study (abbreviated GWAS) is a research approach …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders … organ transplantation, are used for treatment. This study will evaluate patients with MMA and cobalamin disorders … director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association A volunteer non-profit organization whose mission …
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.
… A RUNX1 Longitudinal Natural History Study was launched by a team of NHGRI investigators at the … .  To learn more or enroll in the Natural History Study, email natalie.deuitch@nih.gov . … The purpose of this … 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.
… The CLINSEQ® Study seeks to learn about the role that your genes play in … 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 …
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 goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… We appreciate your interest in the COVIDcode study. We are not accepting new participants at this time. … contáctenos a (240) 274-6777 o covidcode@nih.gov . This study aims to learn more about the genetic contributions to … test positive for our main analyses.  … If you join this study, we will: Ask you to donate a blood or saliva sample …