Search Results
Clinical Research
A study for patients with unexpected genetic results
… A new study is recruiting people who received unexpected genetic … … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” from genetic … a secondary result, you may be eligible to join this study. The purpose of this study is to learn about how people …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … Room ) How much more sequencing, if any, is needed to study Mendelian and common disease, and what should NHGRI do … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She earned her Ph.D. from … predisposition and breed sharing combined with genome-wide association, to find the inherited loci associated with high …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest … The researchers used whole genome sequencing and genome-wide association studies to identify genomic variants associated …
Research Funding
The Non-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic … of genes? A start to interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… Genomics is transforming how we study, diagnose and treat cancer. … Did you know that we are … genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute. … Genetic Disorder, Genetic …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
… Jr. is acting deputy director of the National Human Genome Research Institute (NHGRI) and a member of the senior … State University. Mr. Bonham was a fellow in the American Association of Medical Colleges Health Services Research … Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS), conducted at two U.S. sites and one …